[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"National Eye Institute (NEI)\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":391},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,16,0,[8,41,73,96,127,147,166,188,210,232,259,283,307,327,346,366],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100268233","clinical-and-molecular-studies-in-families-with-inherited-eye-disease-100268233",false,"NCT02771236","Clinical and Molecular Studies in Families With Inherited Eye Disease","* INCLUSION CRITERIA:\n\nTo be eligible, the following inclusion criteria must be met, where applicable;\n\n1. Participant must be four years of age or older.\n2. Participant must understand and sign the protocol s informed consent document.\n3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.\n4. All participants must be able to cooperate with study examination and phlebotomy.\n\nEXCLUSION CRITERIA:\n\nA participant is not eligible if any of the following exclusion criteria are present:\n\n1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.\n2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.\n3. Participant requires sedation for study purposes.","ALL","4 Years","120 Years",{"count":19,"type":20},5000,"ESTIMATED","OBSERVATIONAL","Background:\n\nGenes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases.\n\nObjective:\n\nTo try to identify the genes linked to the development of inherited eye diseases.\n\nEligibility:\n\nPeople ages 4 and older who have or have a family member with an inherited eye disease\n\nDesign:\n\nParticipants will be screened with medical history and medical records.\n\nParticipants will have one visit that will take 3-4 hours. This will include:\n\nMedical and family history\n\nEye exam: This includes the pupil being dilated.\n\nElectroretinography: A small electrode is taped to the forehead. Participants sit in the\n\ndark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in\n\nthe eyes. They will watch flashing lights.\n\nBlood tests\n\nSaliva sample: They will spit into a container or have the inside of their cheek swabbed.\n\nGenetic testing will be done on participants blood or saliva.\n\nParticipants may meet with the researchers to discuss their genetic tests.\n\n...",[24],"Inherited Eye Disease",[26,27],"Genetics","Natural History","RECRUITING","2026-07-01",{"date":31,"type":32},"2026-07-02","ACTUAL",{"date":34,"type":32},"2016-10-04",{"date":36,"type":20},"2032-01-01",{"name":38,"class":39},"National Eye Institute (NEI)","NIH",10,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":48,"sex":15,"minAge":49,"maxAge":17,"enrollmentInfo":50,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":52,"conditions":53,"keywords":59,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":4,"leadSponsor":71,"locationsCount":72},"100170772","national-eye-institute-biorepository-for-retinal-diseases-100170772","NCT01496625","National Eye Institute Biorepository for Retinal Diseases","NEI Intramural Biorepository for Retinal Diseases","* INCLUSION CRITERIA:\n\nParticipants will be eligible if they:\n\n* Have the ability to understand and sign an informed consent or have a parent\u002Flegal guardian to do so if they are minor children.\n* Manifest diagnosed or undiagnosed retinal disease(s), or could serve as an unaffected control suitable for comparison to participants with various retinal diseases, particularly AMD and diabetic retinopathy (taking into account matching factors such as age and past ocular history).\n\nEXCLUSION CRITERIA:\n\nParticipants will not be eligible if they:\n\n* Are unable or unwilling to give informed consent that includes collection and study of at least one peripheral blood sample.\n* Are unable or unwilling to give informed consent that includes use of NIH medical records and clinical samples for research.\n* Have a systemic disease that compromises the ability to provide adequate ophthalmologic examination or treatment.",true,"2 Years",{"count":51,"type":20},650,"Background:\n\n\\- To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some people respond to treatment while others do not. Researchers want to collect physical samples and personal data to develop a National Eye Institute database.\n\nObjectives:\n\n\\- To collect health information and blood and tissue samples from people with and without eye diseases, to be used in research studies.\n\nEligibility:\n\n* Individuals at least 2 years of age with different types of eye disease.\n* Healthy volunteers with no history of eye disease.\n\nDesign:\n\n* Participants may be recruited from National Eye Institute studies or may be referred from other sources.\n* Participants will be screened with a physical exam and medical history. They will also have a full eye exam. Questions will be asked about family medical history, especially about eye disease.\n* Blood samples will be collected. Other samples, such as saliva, tears, hair, stool, and urine, may be collected as needed. Adult participants may also provide a skin sample.\n* Tissue or fluid from eye collected as part of eye care or treatment may also be added to the database.\n* No treatment will be provided as part of this study.",[54,55,56,57,58],"Age-Related Macular Degeneration","Diabetic Retinopathy","Von Hippel-Lindau Syndrome","Retinal Disease","Retinal Vein Occlusion",[60,57,55,61,62,27,63,64,65],"Biological Specimens","Phenotype-Genotype correlation","Age-Related Macular Degeneration (AMD)","AMD","Healthy Volunteer","HV","2026-06-27",{"date":68,"type":32},"2026-06-30",{"date":70,"type":32},"2012-06-18",{"name":38,"class":39},1,{"id":74,"slug":75,"hasResults":11,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":4,"eligibilityCriteria":79,"healthyVolunteers":48,"sex":15,"minAge":49,"maxAge":80,"enrollmentInfo":81,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":83,"conditions":84,"keywords":86,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":4,"leadSponsor":95,"locationsCount":72},"100106859","screening-for-research-participants-100106859","NCT00655096","Screening for Research Participants","Screening Protocol for the Evaluation and Diagnosis of Potential Research Participants","* INCLUSION CRITERIA:\n\nParticipants will be able to enroll if they:\n\n* Have a diagnosed ocular disease\u002Fdisorder; OR\n* Potentially have an unusual, interesting, or unknown ocular condition that requires the establishment of a diagnosis; OR\n* Potentially participate as a disease-free control participant in an NEI clinical research study; OR\n* Are an unaffected first-degree relative of a participant with either a diagnosed or undiagnosed ocular disorder; AND\n* Have the ability to understand and sign an informed consent OR if they are minor children have a legal parent\u002Fguardian with the ability to do the same.\n* Adults with impaired capacity to consent must have a Legally Authorized Representative (LAR) who is able to provide informed consent.\n\nEXCLUSION CRITERIA:\n\nParticipants will be unable to enroll if they:\n\n* Are unwilling or unable to cooperate with the study procedures.\n* Female participants of childbearing potential who are pregnant are not eligible for enrollment.","100 Years",{"count":82,"type":20},10000,"This study will allow National Eye Institute (NEI) doctors the opportunity to examine people with eye disease, whether the diagnosis is known or not, to determine if they are eligible for other NEI research studies. No treatment is offered in this study.\n\nPeople of all ages with various eye conditions, including genetic conditions, eye movement disorders, inflammatory eye diseases, retinal diseases and external eye diseases, may be eligible for this study.\n\nParticipants undergo various tests and procedures to diagnose or evaluate their eye disease. The procedures may include the following:\n\n* Personal and family medical history\n* Physical examination and blood tests, including genetic testing.\n* Eye examination with dilation to measure visual acuity and eye pressure and to examine the front and back parts of the eye.\n* Questionnaire about vision and daily activities.\n* Conjunctival swab or lacrimal bland biopsy, or both: A sample of cells from the eyes is collected by swabbing the surface of the eye or by surgically removing a small sample of the surface of the eye or tear gland.\n* Electroretinogram to examine retinal function: The subject sits in the dark with his or her eyes patched for 30 minutes. The patches are removed, the surface of the eyes is numbed, and contact lenses that can sense signals from the retina are placed on the eyes. The subject then watches flashing lights.\n* Fluorescein angiography to examine the blood vessels in the eye: A dye is injected into a vein in the arm. The dye travels through the veins to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels.\n* Optical coherence tomography to measure retinal thickness: A machine used to examine the eyes produces cross-sectional pictures of the retina.\n* Microperimetry to test how sensitive different parts of the retina are to changing levels of light. The subject sits in front of a computer and presses a button when he or she sees a light on the screen.\n* Oculography to record eye movements: Eye movements are measured by contact lenses or goggles that the subject wears while watching a series of spots on a computer screen.",[85],"Eye Diseases",[87,88,89],"Eye","Photograph","Retina","2026-06-25",{"date":92,"type":32},"2026-06-26",{"date":94,"type":32},"2008-08-20",{"name":38,"class":39},{"id":97,"slug":98,"hasResults":11,"nctId":99,"briefTitle":100,"officialTitle":101,"acronym":4,"eligibilityCriteria":102,"healthyVolunteers":11,"sex":15,"minAge":103,"maxAge":104,"enrollmentInfo":105,"targetDuration":4,"studyType":107,"phases":108,"briefSummary":111,"conditions":112,"keywords":115,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":126},"100388585","phase-1-autologous-transplantation-of-induced-pluripotent-stem-cell-derived-retinal-pigment-epithelium-for-geographic-atrophy-associated-with-age-related-macular-degeneration-100388585","NCT04339764","Autologous Transplantation of Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium for Geographic Atrophy Associated With Age-Related Macular Degeneration","A Phase I\u002FIIa Trial for Autologous Transplantation of Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium for Geographic Atrophy Associated With Age-Related Macular Degeneration","* INCLUSION CRITERIA:\n\nParticipant Eligibility Criteria:\n\nTo be eligible, the following inclusion criteria must be met, where applicable.\n\n* Participant must be 55 years of age or older.\n* Participant must have a diagnosis of dry AMD, defined as presence (or history, as documented in available color fundus photographs) of at least one medium or large druse (greater than or equal to 63 micrometer diameter) in the macula in at least one eye; AND presence of GA in at least one eye.\n* Participant must understand and sign the protocol s informed consent document.\n* Any participant of childbearing potential must have a negative pregnancy test at screening and must be willing to undergo pregnancy testing prior to RPE transplantation.\n* Any participant of childbearing potential and any participant able to father children who has a partner of childbearing potential must have (or have a partner who has) had a hysterectomy or vasectomy, be completely abstinent from intercourse, or must agree to practice an effective method of contraception through Month 12 in the study. Acceptable methods of contraception include:\n\n  * Hormonal contraception (i.e., birth control pills, injected hormones, dermal patch or vaginal ring),\n  * Intrauterine device,\n  * Barrier methods (diaphragm, condom) with spermicide, or\n  * Surgical sterilization (tubal ligation).\n* Participant must be medically able to comply with the study treatment (including ability to safely receive anesthesia for surgery), study testing and procedures, and follow-up visits.\n\nStudy Eye\u002FFellow Eye Eligibility Criteria\n\nThe participant must have at least one eye meeting all inclusion criteria and none of the exclusion criteria listed below. The fellow eye must also meet the relevant eligibility criteria listed below.\n\nStudy Eye Inclusion Criteria:\n\n* The study eye must have one or more regions of geographic atrophy with total area of 1 disc area or more. A region of geographic atrophy is defined as an area of uniform hypofluorescence on fundus autofluorescence (FAF) imaging, with greatest linear dimension at least 500 micrometer, with a border within 500 micrometer of the foveal center, not compatible with pigmentary changes, drusen, RPE detachment, drusenoid RPE detachment, hemorrhage, or other lesion. (Note: If macular geographic atrophy is contiguous with peripapillary atrophy, complicating calculation of total area, only atrophy temporal to a vertical line placed a half disc diameter temporal to the temporal border of the disc will be included in the total area of geographic atrophy calculated for eligibility purposes.)\n* For participants in the first cohort, the study eye must have an ETDRS best-corrected visual acuity (BCVA) letter score of \\\u003C= 53 and \\>= CF (i.e., Snellen equivalent between 20\u002F100 and CF), and the fellow eye must have a letter score no more than five letters worse than the study eye using Electronic Visual Acuity (EVA) testing. If the study eye is CF vision, then the fellow eye must be both (1) CF or better vision and (2) subjectively as good or better than the study eye according to the subject s perception. (Note: Letter scores within five or fewer letters of each other are accordingly considered equal for eligibility determination, and other factors may be used to select the study eye if both are eligible by BCVA.\n* For participants in the second cohort, the study eye must have an ETDRS best-corrected visual acuity (BCVA) letter score of \\\u003C= 58 and \\>= CF (i.e., Snellen equivalent between 20\u002F80 and CF), and the fellow eye must have a letter score no more than five letters worse than the study eye using Electronic Visual Acuity (EVA) testing. If the study eye is CF vision, then the fellow eye must be both (1) CF or better vision and (2) subjectively as good or better than the study eye according to the subject s perception. (Note: Letter scores within five or fewer letters of each other are accordingly considered equal for eligibility determination, and other factors may be used to select the study eye if both are eligible by BCVA.\n* The compromise in visual acuity for the study eye must be judged predominantly secondary to dry AMD, in the judgment of the investigator.\n* The study eye must have clarity of ocular media and degree of pupil dilation sufficient to permit adequate fundus photography and safe vitrectomy surgery.\n* The study eye must be either pseudophakic or aphakic.\n\nEXCLUSION CRITERIA:\n\nA participant is not eligible if any of the following exclusion criteria are present:\n\n* Participant is actively receiving another study medication \u002F investigational product (IP).\n* Participant has any condition that significantly increases risk of systemic corticosteroids or systemic steroid-sparing immuno-modulatory agents, such as uncontrolled diabetes mellitus (defined as HbA1C \\> 7.5 at Baseline), chronic hepatitis or liver failure (defined, as elevated liver function tests (LFTs): alanine transaminase (ALT) or aspartate transaminase (AST) \\>= 2x upper limit of normal at Baseline), kidney disease with an eGFR \\\u003C25 mL\u002Fmin\u002F1.73 m2 for 3 months or more or by any other evidence of disease chronicity, or present infection with HIV, syphilis, tuberculosis, hepatitis B, or hepatitis C (past infection now resolved, where applicable, is not exclusionary; but persistent infection, even if latent, is exclusionary).\n* Participant has diagnosis of a malignancy expected to affect two-year survival.\n* Participant is pregnant, breast-feeding, or planning to become pregnant through the first 12 months of the study.\n* Participant has a family history of a retinal degeneration other than AMD suspected to play a role in the ocular phenotype of the participant in the judgment of the investigator, based on disease features and mode of inheritance, such as in a case of autosomal dominant retinal degeneration in a parent or child.\n* Participant is taking, or has taken within the previous year, medication with known potential toxicity to the retina, optic nerve, or lens (such as chloroquine, hydroxychloroquine, ethambutol).\n* Participant is taking any form of systemic anticoagulation which cannot be stopped for an indefinite period of time without significant risk. The determination of significant risk to the participant must be at the discretion of the study investigators and prescribing physician (or qualified alternative).\n* Participant is unable or unwilling to give informed consent that includes use of medical records and clinical samples for current and future research.\n\nStudy Eye Exclusion Criteria:\n\n* The study eye has macular, subretinal or choroidal neovascularization, as assessed by FA and OCT; or any history of such neovascularization (as assessed by past available records or images).\n* The study eye has serous or hemorrhagic pigment epithelial detachment, as assessed by FA and OCT, that is clinically significant in the judgment of the investigator.\n* The study eye has a history of photodynamic therapy (PDT) or macular thermal laser photocoagulation, or history of intravitreal injection of anti-vascular endothelial growth factor (VEGF) agents or corticosteroids (excepting medications used peri-operatively at prior cataract surgery). The study eye has had intravitreal injections (anti-complement therapy) for treatment of dry AMD in the previous 12 weeks before enrollment. Any intravitreal injections with anti-complement therapy prior to 12 weeks are not exclusionary.\n* The study eye has an axial length \\> 25.0 mm.\n* The study eye has had surgery in the previous 12 weeks, or laser capsulotomy in the previous four weeks.\n* The study eye has chronic glaucoma; OR significant ocular hypertension, defined as documented intraocular pressure of \\>= 26 mmHg on at least two occasions in the absence of self-limited acute glaucoma; OR history of probable or definite steroid response manifesting as acute glaucoma or ocular hypertension, even if self-limited and no longer present; OR the fellow eye has evidence for present or past glaucoma or ocular hypertension judged to significantly impact the risk of glaucoma in the study eye (including history of probable or definite steroid response). (Note: History of self-limited acute glaucoma in a study or fellow eye, if not secondary to steroid response, and if now resolved and not expected to recur (e.g., history of elevated intraocular pressure from retained visco-elastic after cataract surgery), is not exclusionary. History of glaucoma or ocular hypertension in the fellow eye, if not felt to significantly impact risk of glaucoma in the study eye, is not exclusionary.)\n* The study eye has a condition materially increasing the risks of surgery or potentially affecting visual function over the next two years in the judgment of the investigator, such as chronic uveitis, diabetic retinopathy, keratitis, scleritis, optic neuropathy, untreated retinal detachment, macular edema from prior vein occlusion or other cause, proliferative vitreoretinopathy (PVR), vitreous hemorrhage, pathologic myopia, etc. A history of such conditions is not exclusionary, if judged to not materially increase risks of surgery or to potentially affect vision in the next two years in the opinion of the investigator.","55 Years","95 Years",{"count":106,"type":20},20,"INTERVENTIONAL",[109,110],"PHASE1","PHASE2","Background:\n\nAge-related macular degeneration is a common eye disease in people over 50. The \"dry\" form of the disease can worsen into geographic atrophy, causing blind spots. Researchers want to learn if replacing older eye cells with younger ones can help treat this disease.\n\nObjective:\n\nTo test the safety of putting cells inside the eye as a possible future treatment for dry age-related macular degeneration.\n\nEligibility:\n\nPeople ages 55 and older who have geographic atrophy with loss of vision. People who have had \"wet\" macular degeneration in study eye are NOT eligible.\n\nDesign:\n\nParticipants will be screened with:\n\n* Medical history\n* Physical exam\n* Blood and urine tests\n* Eye exam\n* Eye photos\n* Fluorescein angiography. An intravenous (IV) line is placed in an arm vein. A dye is injected. A camera takes pictures of the dye as it flows through the eyes' blood vessels.\n* Electroretinography. An electrode is taped to participants' forehead. They sit in the dark. After 30 minutes, numbing eye drops and contact lenses are placed in their eyes. They watch flashing lights.\n* Tuberculosis test\n* Chest X-ray\n* Electrocardiography. Sticky pads are placed on participants' chest to record the heart's electrical activity.\n\nParticipants will have at least 14 study visits over 5 and a half years. They will repeat screening tests.\n\nParticipants will have retinal pigment epithelium (RPE) transplantation surgery in one eye. For this, cells from participants' blood are turned into RPE cells. These cells are placed in their eye through a cut in their retina. They will get dilating eye drops, an IV line, and anesthesia that may make them sleep. A gas bubble will be put in their eye to help it heal. Participants will receive immunosuppressive medications to avoid transplant rejection.\n\nParticipants will be contacted yearly for up to 15 years.",[113,114],"Dry Age-Related Macular Degeneration","Geographic Atrophy",[89,116,117],"Cell Therapy","Vitrectomy","2026-06-23",{"date":120,"type":32},"2026-06-24",{"date":122,"type":32},"2020-09-23",{"date":124,"type":20},"2029-05-31",{"name":38,"class":39},2,{"id":128,"slug":129,"hasResults":11,"nctId":130,"briefTitle":131,"officialTitle":131,"acronym":4,"eligibilityCriteria":132,"healthyVolunteers":11,"sex":15,"minAge":133,"maxAge":17,"enrollmentInfo":134,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":136,"conditions":137,"keywords":139,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":141,"startDateStruct":142,"completionDateStruct":144,"leadSponsor":146,"locationsCount":72},"100215146","whole-exome-and-whole-genome-sequencing-for-genotyping-of-inherited-and-congenital-eye-conditions-100215146","NCT02077894","Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions","* INCLUSION CRITERIA:\n\nTo be eligible, participants must meet the following criteria:\n\n1. Participant is affected with an eye condition under study or is a family member of an affected individual who will be informative for ES\u002FGS analysis and interpretation.\n2. Participant or legally authorized representative (LAR) of participant understands and signs the informed consent document.\n\nEXCLUSION CRITERIA:\n\n1. Participants who cannot comply with study procedures are ineligible.\n2. Participants who are minors are ineligible if they do not have a parent\u002FLAR who can consent and make decisions on their behalf. Participants who are or become decisionally impaired are ineligible if they do not have, or are unable to obtain, a legally authorized representative who can consent and make decisions on their behalf.\n3. Participants who are minors and under joint custody are ineligible if parents disagree about study participation.\n4. Prospective participants or their parent\u002FLAR who, based on the judgment of the team, appear to have impaired ability to understand and appropriately use complex medical and genetic information, or to cope with potentially life altering medical information, will be ineligible.","1 Day",{"count":135,"type":20},2000,"Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the document). This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genetic conditions involving the eye.\n\nStudy Population: We plan to recruit 2,000 participants, to include both participants with an eye condition under study and unaffected family members. Ideally unaffected family members will be parents of an affected participant.\n\nDesign: Participants will be self-referred or referred by an outside clinician. They will preferably be evaluated at the National Institutes of Health (NIH), but the option to participate offsite will be offered. Participants evaluated onsite will be recruited through other pre-existing NIH protocols, such as the National Eye Institute (NEI) Screening protocol (08-EI-0102), the NEI Ocular Natural History protocol (16-EI-0134), the Genetics of Inherited Eye Disease protocol (15-EI-0128), and the Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) protocol (13-EI-0049).\n\nOffsite participants will be screened via phone or secure videoconference, and records will be requested for evaluation of affected participants. Both affected and unaffected eligible participants will undergo genetic counseling and will provide a blood sample and\u002For saliva sample for exome or genome sequencing. Biological relationships will be confirmed prior to exome or genome sequencing. Sequence data will be analyzed for primary variants and secondary findings, unless participants choose to opt-out of secondary analysis and reporting. All sequence variants deemed clinically relevant will be validated in a Clinical Laboratory Improvement Amendment (CLIA)-certified laboratory. The results will be returned to the participant in-person, secure videoconference, or by telephone.\n\nOutcome Measures: This is an etiologic study that will generate molecular information about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular information for previously uncharacterized conditions involving the eye....",[138],"Genetic Eye Disease",[140,138,27],"Whole Genome Sequencing",{"date":120,"type":32},{"date":143,"type":32},"2014-08-05",{"date":145,"type":20},"2029-08-05",{"name":38,"class":39},{"id":148,"slug":149,"hasResults":11,"nctId":150,"briefTitle":151,"officialTitle":152,"acronym":4,"eligibilityCriteria":153,"healthyVolunteers":11,"sex":15,"minAge":154,"maxAge":17,"enrollmentInfo":155,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":157,"conditions":158,"keywords":160,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":162,"startDateStruct":163,"completionDateStruct":4,"leadSponsor":165,"locationsCount":72},"100143971","genotype-phenotype-study-of-patients-with-plaquenil--induced-retinal-toxicity-with-evaluation-of-the-abca4-gene-100143971","NCT01145196","Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene","Genotype - Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity","* INCLUSION CRITERIA:\n\n  1\\. Affected participants must be 18 years of age or older and have:\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and\n* History of Plaquenil(R) use, and\n* Evidence of Plaquenil(R)-induced retinal toxicity, based on clinical findings.\n\n  2\\. Unaffected volunteers must be 18 years of age or older and have:\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and\n* History of Plaquenil(R) use, and\n* No retinal disease upon examination within the last six months.\n\n  3\\. All participants must be able to:\n* Provide their own consent, and\n* Safely provide a blood sample.\n\n\\\u003CTAB\\>\n\nEXCLUSION CRITERIA:\n\nParticipants with other known (genetic) retinal disease including but not limited to: Stargardt's disease and cone or cone-rod dystrophy whose diagnosis preceded their Plaquenil(R) use. Participants with no known previous genetic diagnosis but with clinical findings associated with a genetic diagnosis, such as parafoveal or macular flecks which are associated with Stargardt's disease or fundus flavimaculatus, will also be excluded.","18 Years",{"count":156,"type":20},320,"Background:\n\n\\- Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called Plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking Plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person's genes explain why some people develop Plaquenil-induced retinal toxicity while others do not.\n\nObjectives:\n\n\\- To investigate possible correlations between certain genes or genetic mutations and Plaquenil-induced retinal toxicity.\n\nEligibility:\n\n* Individuals at least 18 years of age who have previously used Plaquenil.\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome.\n* Both individuals who have and have not developed Plaquenil-induced retinal toxicity will be eligible for this study.\n\nDesign:\n\n* The study requires five annual outpatient visits to the NIH Clinical Center.\n* Participants will provide a personal and family medical history, and will have a full eye examination.\n* Participants will also provide blood samples for genetic analysis, including whole exome and whole genome sequencing.\n* No treatment will be provided as part of this protocol.",[159,57],"Genotype",[57,161,27],"Plaquenil-Induced",{"date":120,"type":32},{"date":164,"type":32},"2010-08-23",{"name":38,"class":39},{"id":167,"slug":168,"hasResults":11,"nctId":169,"briefTitle":170,"officialTitle":171,"acronym":4,"eligibilityCriteria":172,"healthyVolunteers":48,"sex":15,"minAge":133,"maxAge":17,"enrollmentInfo":173,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":175,"conditions":176,"keywords":179,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":182,"lastUpdatePostDateStruct":183,"startDateStruct":185,"completionDateStruct":4,"leadSponsor":187,"locationsCount":72},"100165906","cell-collection-to-study-eye-diseases-100165906","NCT01432847","Cell Collection to Study Eye Diseases","Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls","* INCLUSION CRITERIA:\n\nTo be eligible, participants must meet the following inclusion criteria.\n\n1. Have the ability to understand and sign an informed consent or have a parent\u002Flegal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity.\n2. Participant meets one of the following criteria:\n\n   1. Participant has been diagnosed with an ocular condition of interest including but not limited to: degenerative retinal diseases, optic atrophy, microphthalmia\u002Fanophthalmia, ciliopathy, and other ocular developmental or degenerative conditions.\n   2. Participant is free of eye diseases and could serve as an unaffected control. Participant's age, sex, and ethnicity must match an existing participant with one of the eye diseases under study. Control participants matched to AMD participants must not have drusen greater than 63 microns in size.\n3. Adult participant is able to provide a punch skin biopsy and 30 mL of peripheral venous blood OR child participant is able to provide a punch skin biopsy and the lesser of 5 mL\u002Fkg or 30 mL of peripheral venous blood. Healthy, unaffected children will only have one skin punch biopsy done 3mm or less in size. In affected participants, an additional punch may be gathered if the initial sample does not contain adequate cells. This will be taken from children ages seven years and older. Sampling of ten occipital hairs and\u002For saliva may be pursued at the investigator's discretion. Participants not able to provide a skin biopsy or blood sample may opt to provide 100-200 ml of fresh urine. As a rule, samples will be collected on non-sedated\u002Fanesthetized participants. Sedation\u002Fanesthesia will NOT be used solely for the purpose of sample collection. In rare instances where a minor requires sedation for another medically indicated procedure, samples may be collected at the time of sedation\u002Fanesthesia. Because young children may not be able to cooperate with sample collection, those unable to provide a skin biopsy, urine sample or a blood sample may be excluded from the study, based on the judgment of the examining investigator.\n4. Participant meets one of the following criteria:\n\n   1. Participant affected with an ocular condition is one year of age or older.\n   2. Participant affected with Best disease, L-ORD, or AMD is 18 years of age or older.\n   3. Unaffected participant is seven years of age or older and willing and able to provide assent.\n\nEXCLUSION CRITERIA:\n\nA participant is not eligible if any of the following exclusion criteria are present.\n\n1. Participant is unable to comply with study procedures.\n2. Participant has a systemic disease that, in the opinion of the investigator, compromises the ability to provide adequate samples. Examples of co-existing diseases that would exclude a participant include a bleeding diathesis or a genetic susceptibility to infections, particularly cutaneous infections.\n\nADDITIONAL CRITERIA FOR CLNICAL-GRADE CELL LINE GENERATION:\n\nThe additional eligibility criteria must be met for participants donating samples for the generation of clinical-grade cell lines.\n\nInclusion Criteria\n\n1. Participant must be greater than 18 years of age, as of the date of enrollment. There is no upper age limit for donor enrollment.\n2. Participant is able to provide a punch skin biopsy and 200 ml of peripheral venous blood.\n3. Participant is willing and eligible to co-enroll in NEI protocol 15-EI-0128.\n\nExclusion Criteria\n\n1. Participant has medical history that includes any of the following:\n\n   1. Thrombocytopenia or other blood dyscrasias\n   2. Bleeding diathesis\n   3. Antibiotic use within the prior 48 hours\n   4. Active cancer or history of cancer within the past five years\n   5. History of exposure to transfusion transmitted diseases including HIV and hepatitis B and C as defined by the Standards for Blood\n\n      Banking and Transfusion Services, American Association of Blood Banks.\n   6. Travel to an area where malaria is endemic as defined by the CDC (www.cdc.gov\u002Ftravel)\n   7. At risk for the possible transmission of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) as described in the FDA Guidance for Industry, January 9, 2002, \"Revised Preventive Measures to Reduce the Possible Risk of Transfusion of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) by Blood and Blood Products\"\n2. Participant is currently febrile (temperature \\> 38 degrees C)\n3. Participant has Hemoglobin level:\n\n   * African American women \\\u003C11.5 grams\u002FdL\n   * Other women \\\u003C 12.0 grams\u002FdL\n   * Men \\\u003C12.5 grams\u002FdL\n4. Participant has low hematocrit (HCT):\n\n   * African American women \\\u003C 34%\n   * Other women \\\u003C36%\n   * Men \\\u003C38%\n5. Participant has Platelets \\\u003C150 x 103\u002FmicroL\n6. Participant has Absolute neutrophil count \\\u003C1.0 x 103\u002FmicroL.\n7. Participant has positive tests for blood borne pathogens (as required by the Standards for Blood Banks and Transfusion Services, American Association of Blood Banks. The currently required tests include anti-HIV1\u002F2, anti-HCV, anti-HBc, Anti-HTLV I\u002FII, anti-T. Cruzi, HBsAg, syphilis, and molecular testing for West Nile virus, HCV, HBV, and HIV-1).",{"count":174,"type":20},930,"Background:\n\n\\- Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, saliva, urine, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers.\n\nObjectives:\n\n\\- To collect hair, skin, saliva, urine, and\u002For blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD.\n\nEligibility:\n\n* Individuals affected with ocular condition is one year of age or older.\n* Individuals affected with Best disease, L-ORD, or AMD is 18 years of age or older.\n* Unaffected individuals are seven years of age or older.\n\nDesign:\n\n* The study requires one visit to the National Eye Institute.\n* Participants will be screened with a medical and eye disease history. They may also have an eye exam.\n* Participants will provide a hair sample, saliva sample, urine sample, blood sample, and\u002For a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.",[57,63,177,178],"Retinal Degeneration","Retinitis Pigmentosa",[180,181,62,27,177,54,63],"Best Disease","Late-Onset Retinal Degeneration (L-ORD)","2026-06-18",{"date":184,"type":32},"2026-06-22",{"date":186,"type":32},"2011-09-07",{"name":38,"class":39},{"id":189,"slug":190,"hasResults":11,"nctId":191,"briefTitle":192,"officialTitle":193,"acronym":4,"eligibilityCriteria":194,"healthyVolunteers":11,"sex":15,"minAge":195,"maxAge":80,"enrollmentInfo":196,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":198,"conditions":199,"keywords":203,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":205,"lastUpdatePostDateStruct":206,"startDateStruct":207,"completionDateStruct":4,"leadSponsor":209,"locationsCount":72},"100192260","pathogenesis-and-genetics-of-microphthalmia-anophthalmia-and-uveal-coloboma-mac-100192260","NCT01778543","Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)","Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)","* INCLUSION CRITERIA:\n* The participant must be one year of age or older.\n* The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report.\n* The participant must be able to provide a blood, buccal\u002Fsaliva, or DNA sample.\n* The participant must be able to understand and sign this protocol s informed consent form OR have a legally authorized representative (LAR) with the ability to do the same.\n* The participant must either:\n\n  * a. be affected by MAC(i) OR\n  * b. be an asymptomatic relative of an affected individual.\n\n    (i) Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation co-segregating with MAC, or a rare or unique kidney finding).\n\nEXCLUSION CRITERIA:\n\n* Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and\u002For a LAR may reach out regarding participation in the study.\n* Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study; however, non-NEI NIH employees may enroll in the study.","1 Year",{"count":197,"type":20},600,"Background:\n\n\\- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as \"MAC\". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings).\n\nObjectives:\n\n\\- To study the genes associated with MAC.\n\nEligibility:\n\n\\- Individuals at least 1 years of age who either have MAC or are an unaffected relative (such as a parent or sibling).\n\nDesign:\n\n* Participants will have a physical exam and medical history. They will also have a full eye exam.\n* Participants with MAC may have other exams, such as imaging studies and hearing assessments.\n* All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.",[200,201,202],"Coloboma","Anophthalmia","Microphthalmia",[204,27,26],"Repository","2026-06-17",{"date":182,"type":32},{"date":208,"type":32},"2013-01-08",{"name":38,"class":39},{"id":211,"slug":212,"hasResults":11,"nctId":213,"briefTitle":214,"officialTitle":214,"acronym":4,"eligibilityCriteria":215,"healthyVolunteers":48,"sex":15,"minAge":216,"maxAge":17,"enrollmentInfo":217,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":219,"conditions":220,"keywords":222,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":224,"lastUpdatePostDateStruct":225,"startDateStruct":227,"completionDateStruct":229,"leadSponsor":231,"locationsCount":72},"100233485","adaptive-optics-retinal-imaging-100233485","NCT02317328","Adaptive Optics Retinal Imaging","* INCLUSION CRITERIA:\n\nParticipants will be eligible if they:\n\n* Are 12 years of age or older.\n* Have the ability to cooperate with an eye exam and adaptive optics imaging.\n* Have the ability to understand and sign an informed consent or have a parent\u002Flegal guardian to do so if they are minor children.\n* Have an eye disease or are a healthy volunteer with a normal eye exam (no visually-significant eye findings on examination).\n\nEXCLUSION CRITERIA:\n\nParticipants will not be eligible if:\n\n-They have a condition which prevents adequate images from being obtained (e.g. unstable fixation or media opacity).\n\nEXCLUSION CRITERIA FOR FLUORESCEIN AND\u002FOR INDOCYANINE GREEN IMAGING\n\nPartaicipants are not eligible for fluorescein and\u002For indocyanine green imaging if they:\n\n* Are under 18 years of age.\n* For participants who will undergo fluorescein imaging have a history of adverse reaction to fluorescein.\n* For participants who will undergo indocyanine green imaging have a history of adverse reaction to indocyanine green dye, know or suspected allergies to iodine or shellfish.","12 Years",{"count":218,"type":20},1000,"Background:\n\n\\- By the time diseases of the retina are detected, serious damage has often already been done. Researchers want to find better ways of viewing the retina. One way called adaptive optics may help detect problems earlier.\n\nObjectives:\n\n\\- To study if adaptive optics can help find better ways to diagnose, treat, and manage retinal diseases.\n\nEligibility:\n\n* People over age 12 with an eye disease.\n* Healthy volunteers over age 12.\n\nDesign:\n\n* Participants will be screened with medical history and eye exams. These may include dilating pupils and taking pictures of the eyes.\n* Participants will have 1 or more study visits. They will have:\n* Medical and eye history.\n* Questions about their medications.\n* Eye exam including pupil dilation.\n* Adaptive optics imaging. After dilation, participants sit still while looking into an adaptive optics instrument. They look at specific places and images are taken of their retina.\n* They may also have:\n* More images.\n* Perimetry. Participants look into a lens and press a button when they see a light.\n* Color vision tests.\n* Electroretinogram. Participants will get numbing eye drops and special contact lenses. A small metal electrode will be put on their forehead. They will look at flashing lights and try not to blink.",[85,221],"Healthy Volunteers",[223,27],"Eye Disease","2026-06-13",{"date":226,"type":32},"2026-06-16",{"date":228,"type":32},"2015-02-20",{"date":230,"type":20},"2028-03-31",{"name":38,"class":39},{"id":233,"slug":234,"hasResults":11,"nctId":235,"briefTitle":236,"officialTitle":237,"acronym":4,"eligibilityCriteria":238,"healthyVolunteers":11,"sex":15,"minAge":133,"maxAge":17,"enrollmentInfo":239,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":240,"conditions":241,"keywords":248,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":251,"lastUpdatePostDateStruct":252,"startDateStruct":254,"completionDateStruct":256,"leadSponsor":258,"locationsCount":126},"100553863","national-ophthalmic-genotyping-and-phenotyping-network-eyegene-registered-trademark-stage-3---expansion-of-dna-and-data-repositories-for-rare-inherited-ophthalmic-diseases-100553863","NCT06491615","National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases","National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\nThe participant must present with characteristics consistent with one of the following diagnoses:\n\n* Aniridia\n* Best disease\n* Blue-cone monochromacy\n* Corneal dystrophy\n* Other hypopigmentation disorder affecting vision (e.g., Oculocutaneous and ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome)\n\nOR\n\nThe participant must be a direct, close relative of an affected participant.\n\nOR\n\nA participant who also participated in the eyeGENE Stage 1 protocol who may benefit from further genetic testing.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Those with impaired decision-making capability who do not have a legally-authorized representative.\n* Those unable to provide a saliva sample OR have any disease or condition that makes it unsafe for a subject to provide a suitable blood sample of at least 5 mL to yield more than 50 micrograms of DNA.\n\nAn individual who meets any of the following criteria will be excluded from participation in the optional retinal imaging:\n\n* Those with a history of epilepsy.\n* Children under the age of 18.",{"count":218,"type":20},"Background:\n\nThe eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases.\n\nObjective: To collect information and DNA samples for the study of eye diseases.\n\n* Primary objective\n\n  --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual\n* Secondary objectives\n\n  * To enhance recruitment for clinical trials and investigations in inherited eye diseases\n\n    * To establish genotype-phenotype correlations for rare eye diseases\n\nEligibility:\n\nPeople of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed.\n\nDesign:\n\nResearchers will select participants based on their diagnosis. The data may include images and test results from eye exams.\n\nParticipants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH.\n\nParticipants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic.\n\nThe eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.",[242,243,244,245,180,246,247],"Inherited Ophthalmic Diseases","Hypopigmentation Disorder","Corneal Dystrophy","Blue-cone Monochromacy","Aniridia","Albinism",[249,26,250],"eyeGENE","Inherited","2026-06-06",{"date":253,"type":32},"2026-06-09",{"date":255,"type":32},"2024-07-12",{"date":257,"type":20},"2054-06-27",{"name":38,"class":39},{"id":260,"slug":261,"hasResults":11,"nctId":262,"briefTitle":263,"officialTitle":264,"acronym":4,"eligibilityCriteria":265,"healthyVolunteers":11,"sex":15,"minAge":266,"maxAge":80,"enrollmentInfo":267,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":269,"conditions":270,"keywords":272,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":275,"lastUpdatePostDateStruct":276,"startDateStruct":278,"completionDateStruct":280,"leadSponsor":282,"locationsCount":72},"100407903","stargardt-like-macular-dystrophy-stdg3-secondary-to-mutations-in-elovl4-100407903","NCT04591483","Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4","An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4","* INCLUSION CRITERIA:\n\nTo be eligible, the following inclusion criteria must be met, where applicable.\n\n1. Stated willingness to comply with all study procedures and availability for the duration of the study.\n2. Participant must be at least ten years of age.\n3. Ability to perform required functional testing and ophthalmic imaging.\n4. A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy.\n5. Participant (or legal guardian) must understand and sign the protocol s informed consent document.\n\nEXCLUSION CRITERIA:\n\nA participant is not eligible if any of the following exclusion criteria are present.\n\n1. Two or more definitive mutations in ABCA4 and\u002For one mutation in RDS\u002Fperipherin or PROM1.\n2. Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).","10 Years",{"count":268,"type":20},25,"Background:\n\nSTDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point. Researchers want to learn more about the disease at an individual level.\n\nObjective:\n\nTo understand the natural history of changes in the retina that occur in people with STDG3.\n\nEligibility:\n\nPeople ages 10 and older with STDG3 due to a variant in the ELOVL4 gene.\n\nDesign:\n\nParticipants will have 6 visits. First they will have a screening visit, followed by a baseline visit. Then they will have a visit 6 months later. Then they will have a visit 1, 2, and 3 years after the first visit. Visits will last 4 to 8 hours.\n\nVisits will include the following:\n\nMedical history and physical exam.\n\nComplete eye exam. Participants' eye pressure and ability to see letters on a vision chart will be tested. Their pupils will be dilated with eye drops. Pictures will be taken of the retina and the inside of the eye.\n\nQuestions about participants' family history, especially the presence of eye disease.\n\nVisual field test. Participants will be seated in front of a large dome and asked to press a button when they see a light within the dome.\n\nElectroretinogram. Participants will sit in the dark with their eyes patched for 30 minutes. Then they will wear special contact lenses and watch flashing lights.\n\nOptical coherence tomography. Cross-sectional pictures will be taken of participants' retinas.\n\nFundus autofluorescence. Blue light will be shone into participants eyes to assess the health of the retina....",[271],"Stargardt-Like Macular Dystrophy",[273,274,27],"ABCA4","Oral Metformin","2026-06-04",{"date":277,"type":32},"2026-06-05",{"date":279,"type":32},"2022-04-19",{"date":281,"type":20},"2028-07-16",{"name":38,"class":39},{"id":284,"slug":285,"hasResults":11,"nctId":286,"briefTitle":287,"officialTitle":287,"acronym":4,"eligibilityCriteria":288,"healthyVolunteers":48,"sex":15,"minAge":289,"maxAge":290,"enrollmentInfo":291,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":293,"conditions":294,"keywords":296,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":275,"lastUpdatePostDateStruct":301,"startDateStruct":302,"completionDateStruct":304,"leadSponsor":306,"locationsCount":126},"100317011","perception-sensation-cognition-and-action-in-humans-100317011","NCT03407066","Perception, Sensation, Cognition and Action in Humans","* INCLUSION CRITERIA:\n\nInclusion Criteria for In-lab Participants\n\nA subject can be included in the in-lab portion of the study if he\u002Fshe:\n\n* is in good general health;\n* is between 18 and 65 years old;\n* has visual acuity of 20\u002F40 in at least one eye (corrected with contact lenses is okay);\n* has no hearing impairment requiring a hearing aid.\n* is capable of understanding the procedures and requirements of this study;\n* is willing and able to provide his\u002Fher own informed consent.\n\nInclusion Criteria for On-line Participants\n\nA subject can be included in the on-line portion of the study if he\u002Fshe:\n\n* is in good general health;\n* is between 18 and 65 years old;\n* is capable of understanding the procedures and requirements of this study;\n* is willing and able to provide his\u002Fher own informed consent.\n\nInclusion Criteria for Genetic Screening\u002FOff-site Participants\n\nA subject can be included in the off-site portion of the study if he\u002Fshe:\n\n* is between 13 and 65 years old;\n* is in general good health;\n* is capable of understanding the procedures and requirements of this study;\n* is willing and able to provide his\u002Fher own informed consent.\n\nEXCLUSION CRITERIA:\n\nExclusion Criteria for In-lab Participants\n\nA participant is not eligible for participation in the in-lab portion of this study if any of the following exclusion criteria are present, as self-reported by the prospective participant or determined during clinical testing following consent:\n\n* Participant is pregnant\n* Participant has serious vision or hearing problems; for some sub-studies focused on mechanisms of normal color vision, subjects who are colorblind will also be excluded;\n* Participants without consent capacity will not be enrolled;\n* Participant has a debilitating neurological disorder (examples include, but are not limited to: brain tumor, epilepsy, Alzheimer's Disease, Parkinson's Disease, multiple sclerosis) or a psychiatric disorder (examples include, but are not limited to: schizophrenia, clinical anxiety, severe depression, attention deficit hyperactivity disorder (ADHD), schizophrenia). Patients with non-debilitating conditions such as prosopagnosia, prosopometamorphosia (PMO), or aphantasia will have their conditions noted but will not be excluded);\n* Participant has had a serious head injury or has a history of brain surgery. Head injury is defined as an injury to the brain from some external force resulting in loss of consciousness of 30 minutes or more;\n* Participant has psychoactive drug or alcohol abuse or dependence in the past three months, as determined by the Drug Abuse Screening Test (DAST), except nicotine and caffeine. A score of 6 or greater on the DAST will be considered exclusionary. The effects of nicotine and caffeine in neuroimaging are attenuated if participants do not smoke or consume caffeine 2-3 hours before the scan session; Over-the-counter medication\u002Fherbals will not be a criterion for exclusion;\n* Participant is an NEI employee within the Perception, Cognition and Action section.\n\nAdditional Exclusion Criteria for MRI Sub-studies\n\nContraindication to MR scanning include the following: metallic tattoos or metallic eyeliner; claustrophobia; inability to lie still on their back for approximately 2 hours; implanted cardiac pacemaker or auto-defibrillator; surgical aneurysm clips; implanted neural stimulator; artificial heart valves or pumps; metal fragments in cranial cavity, body or eyes (e.g., history as a metal worker); nitroglycerin patch (foil backer); cochlear implants (tubes are okay); weight \\> 450 lbs; metal rods, plates, screws in body; shrapnel or bullet wound; intrauterine device (IUD) not approved on mrisafety.com (most IUDs are okay); vestibular or inner ear abnormality such as Meniere's disease; metallic braces; hair extensions attached with metallic wires; transdermal patches; movement disorders; dental implants; consumed of nicotine or caffeine in the two hours prior to the experimental session. Subjects may participate in this study but will not be allowed to have a 7.0 T MRI scan if they have metallic dental crowns or a bridge.\n\nExclusion Criteria for Genetic Screening\u002FOff-site Participants\n\nOff-site participation will be biased to participants with XY chromosomes until the genetic sequencing capability changes. We do not limit to just XY patients to provide the possibility of evaluating newer genetic sequencing capacity and because sequencing on XX can provide some information, even if it is not as decisive as on XY patients.\n\nExclusion Criteria for On-line Participants\n\nSubjects may not participate in the on-line portion of the study if they:\n\n* Do not have access to compatible equipment. For example, smartphone screens are too small to be used. The online platform will outline which devices may be used.\n* Are unwilling to allow permission for JavaScript to run on the site and disable any script blockers.\n* Are unwilling to agree to the on-line testing platform's terms and conditions.","13 Years","65 Years",{"count":292,"type":20},10200,"Background:\n\nWhen people see and hear, the brain changes signals from the eyes and ears into perceptions and thoughts. No one fully understands how this happens. Researchers want to explore how healthy brains process sights and sounds.\n\nObjectives:\n\nTo explore how people understand what they see and hear when the brain processes sights and sounds.\n\nEligibility:\n\nParticipants aged 13-65 who have at least 20\u002F40 vision in at least one eye and do not use a hearing aid.\n\nDesign:\n\nSome participants will take tests online anonymously. They will do computer tasks related to colors and behavior.\n\nIn-person participants will be screened with medical history and physical exam. They will complete questionnaires and vision and hearing tests.\n\nParticipants will plan how many testing sessions they will have and when. Sessions last 2-5 hours. They may include:\n\n* Magnetic Resonance Imaging: Magnets and radio waves to take pictures of the brain. Participants will lie on a table that slides in and out of a tube. They will do a task during the scan.\n* Magnetoencephalography: Records magnetic field changes from brain activity. Participants will sit or lie down. A cone will be lowered onto their head. They may do a task during the test.\n* Electromyography: Electrodes attached to the skin will measure the electrical activity of muscles.\n* Electroencephalogram: Electrodes on the scalp will record brain waves.\n* Electrocardiography: Electrodes on the chest will record heart electrical activity.\n* Tests of memory, attention, thinking, vision, and hearing.\n* Eye Tracking: Cameras will follow participants eye movements. They may wear a cap with infrared cameras in front of their eyes.\n\nDuring the sessions, participants vital signs may be monitored.",[295],"Normal Physiology",[297,298,299,300,27],"Magnetic Resonance Imaging (MRI)","MEG","Color Vision","Neuroimaging",{"date":277,"type":32},{"date":303,"type":32},"2019-03-26",{"date":305,"type":20},"2027-12-31",{"name":38,"class":39},{"id":308,"slug":309,"hasResults":11,"nctId":310,"briefTitle":311,"officialTitle":312,"acronym":4,"eligibilityCriteria":313,"healthyVolunteers":48,"sex":15,"minAge":195,"maxAge":17,"enrollmentInfo":314,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":316,"conditions":317,"keywords":318,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":275,"lastUpdatePostDateStruct":321,"startDateStruct":322,"completionDateStruct":324,"leadSponsor":326,"locationsCount":72},"100245273","genetics-of-inherited-eye-disease-100245273","NCT02471287","Genetics of Inherited Eye Disease","The Genetics of Inherited Eye Disease","* INCLUSION CRITERIA:\n\nParticipants will be eligible if they:\n\n1. Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.\n2. Have the ability to cooperate with an age-appropriate eye exam.\n3. Have the ability to understand and sign an informed consent or have a parent\u002Flegal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able\n\nto provide consent.\n\nEXCLUSION CRITERIA:\n\nParticipants will not be eligible if:\n\n1. They are unwilling or unable to be followed as clinically indicated.\n2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative).\n3. Their participation would not contribute to the NEI research mission, at the discretion of the PI.\n\nExclusion Criteria for MRI (if applicable)\n\nParticipants will not be eligible for optional MRI procedure if:\n\n1. They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.\n2. They have claustrophobia and would feel uncomfortable in the MRI machine.\n3. They are not able to lie comfortably on their back for up to one (1) hour.",{"count":315,"type":20},1500,"Background:\n\nResearch has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes.\n\nObjective:\n\nTo learn more about genes involved in eye diseases.\n\nEligibility:\n\nPeople who have a known or suspected inherited eye disease, and their relatives.\n\nDesign:\n\n* All participants will have a medical history, physical exam, and eye exam. They will have blood taken.\n* Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure.\n* Participants may have a skin biopsy. A 3mm piece of skin will be removed.\n* Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells.\n* Participants may have a retina test. They may also have a test that uses light to measure retina thickness.\n* Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes.\n* Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels.\n* Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light.\n* Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen.\n* Participants may complete a color vision test.\n* Participants will provide a specimen for genetic testing.\n* Participants may have a MRI.\n* Participants may complete questionnaires.",[138],[319,320],"Rare","Ocular",{"date":277,"type":32},{"date":323,"type":32},"2015-06-22",{"date":325,"type":20},"2030-09-01",{"name":38,"class":39},{"id":328,"slug":329,"hasResults":11,"nctId":330,"briefTitle":331,"officialTitle":332,"acronym":4,"eligibilityCriteria":333,"healthyVolunteers":11,"sex":15,"minAge":334,"maxAge":80,"enrollmentInfo":335,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":336,"conditions":337,"keywords":338,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":339,"lastUpdatePostDateStruct":340,"startDateStruct":342,"completionDateStruct":344,"leadSponsor":345,"locationsCount":72},"100272102","natural-history-pathogenesis-and-outcome-of-ocular-disorders-100272102","NCT02821767","Natural History, Pathogenesis, and Outcome of Ocular Disorders","Studies of the Natural History, Pathogenesis and Outcome of Ocular Disorders","* INCLUSION CRITERIA:\n\nTo be eligible, the following inclusion criteria must be met, where applicable.\n\n1. Have a diagnosed, undiagnosed or suspected eye disease.\n2. Have the ability to understand and sign an informed consent or have a parent\u002Flegal guardian do so if they are minor children or a legally authorized representative to provide consent for adults without consent capacity.\n\nEXCLUSION CRITERIA:\n\nA participant is not eligible if any of the following exclusion criteria are present.\n\n1. Are unwilling to give informed consent or assent when applicable.\n2. Are unwilling or unable to be followed as clinically indicated.\n3. Have a systemic disease that compromises the ability of NEI clinicians to provide adequate ophthalmologic examination or treatment.","1 Month",{"count":218,"type":20},"Background:\n\nThe National Eye Institute (NEI) wants to evaluate and provide standard treatment to people with eye diseases.\n\nObjective:\n\nTo examine and treat people with eye diseases and learn more about eye diseases and how they are inherited.\n\nEligibility:\n\nPeople with eye diseases who can give consent or have a guardian who can consent for them. Asymptomatic first-degree relatives willing to provide a blood sample may also be enrolled for the purpose of genetic testing.\n\nDesign:\n\nParticipants will be screened with an eye exam.\n\nParticipants will have 1-12 visits per year depending on their eye disease for up to 5 years. Visits last about 4 hours and could include:\n\nMedical and family history\n\nPhysical exam\n\nEye exam and photography.\n\nOculography: They put on contact lenses or goggles. They watch spots on a computer\n\nscreen for 20-30 minutes.\n\nElectrooculography: Small metal disks are placed on the skin next to both eyes. They look left\n\nand right in the dark and light for about 30 minutes.\n\nElectroretinography: They sit in the dark with their eyes patched. A small metal disk is taped\n\nto the forehead. After 30 minutes, the patches are removed and contact lenses put in. They\n\nwatch flashing lights.\n\nFluorescein angiography: A needle guides a thin plastic tube into an arm vein. A dye is\n\ninjected through the tube and travels up the blood vessels in the eyes. Pictures are taken of the\n\neyes.\n\nImmunosuppressive treatment\n\nEye cell sample: Samples are obtained from swabbing, pressing paper on, or taking a small\n\nbiopsy sample from the surface of the eye.\n\nBlood tests\n\nSkin, tear, urine, saliva, stool, or hair sample\n\nExam under anesthesia for some children\n\nAt each visit participants could get medications, eye drops, eye injections, laser treatments, or surgery.",[223],[223,27],"2026-05-28",{"date":341,"type":32},"2026-05-29",{"date":343,"type":32},"2016-08-03",{"date":29,"type":20},{"name":38,"class":39},{"id":347,"slug":348,"hasResults":11,"nctId":349,"briefTitle":350,"officialTitle":350,"acronym":4,"eligibilityCriteria":351,"healthyVolunteers":48,"sex":15,"minAge":352,"maxAge":80,"enrollmentInfo":353,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":355,"conditions":356,"keywords":358,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":339,"lastUpdatePostDateStruct":360,"startDateStruct":361,"completionDateStruct":363,"leadSponsor":365,"locationsCount":72},"100256498","rod-and-cone-mediated-function-in-retinal-disease-100256498","NCT02617966","Rod and Cone Mediated Function in Retinal Disease","* INCLUSION CRITERIA:\n* Participant must be five years of age or older.\n* Participant (or legal guardian) must understand and sign the protocol s informed consent document.\n* Participant must be able to cooperate with the testing required for this study.\n\nFor Participants with retinal disease only:\n\n* Participant must have retinal disease, defined as evidence of loss of retinal dysfunction and\u002For degeneration as established by standard clinical methods including perimetry, ERG and imaging.\n* Participant must have a measurable visual acuity.\n\nFor Healthy Volunteers only:\n\n-Participant must have visual acuity of 20\u002F20 or better, with or without correction (e.g., glasses or contact lens) in at least one eye.\n\nEXCLUSION CRITERIA:\n\n-Participant with changes in pre-retinal media sufficient to obscure a view of the retina.","5 Years",{"count":354,"type":20},500,"Background:\n\nRetinal diseases cause the loss of rod and cone photoreceptors. Symptoms include vision loss and night blindness. Researchers want to learn about rod and cone function in healthy people and people with retinal disease. They want to know if how well a person sees in the dark can test the severity of retinal disease.\n\nObjectives:\n\nTo find out if how well a person sees in the dark can test the severity of retinal disease. To find out if this can help detect retinal disease and track its changes.\n\nEligibility:\n\nPeople ages 5 and older with:\n\nRetinal disease OR\n\n20\u002F20 vision or better with or without correction in at least one eye\n\nDesign:\n\nParticipants will be screened with medical and eye history and eye exam. Those with retinal disease will also have:\n\nEye imaging: Drops dilate the eye and pictures are taken of it.\n\nVisual field testing: Participants look into a bowl and press a button when they see light.\n\nElectroretinogram (ERG): An electrode is taped to the forehead. Participants sit in the\n\ndark with their eyes patched for 30 minutes. Then they get numbing drops and contact\n\nlenses. Participants watch lights while retina signals are recorded.\n\nVisit 1 will be 3-8 hours. Participants will have up to 6 more visits over 6-12 months. Visits include:\n\nEye exam and imaging\n\nTime course of dark adaptation: Participants view a background light for 5 minutes then\n\npush a button when they see colored light.\n\nDark adapted sensitivity: Participants sit in the dark for 45 minutes. They push a button when\n\nthey see colored light.\n\nFor participants with retinal disease, ERG and visual field testing",[177,178,357],"Stargardt's Disease",[89,177,178,357,359],"Dark Adaptation",{"date":341,"type":32},{"date":362,"type":32},"2016-03-24",{"date":364,"type":20},"2029-12-30",{"name":38,"class":39},{"id":367,"slug":368,"hasResults":11,"nctId":369,"briefTitle":370,"officialTitle":371,"acronym":4,"eligibilityCriteria":372,"healthyVolunteers":48,"sex":15,"minAge":352,"maxAge":17,"enrollmentInfo":373,"targetDuration":4,"studyType":107,"phases":375,"briefSummary":376,"conditions":377,"keywords":380,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":383,"lastUpdatePostDateStruct":384,"startDateStruct":386,"completionDateStruct":388,"leadSponsor":390,"locationsCount":126},"100384735","phase-1-virtual-reality-mobility-assessment-of-functional-vision-in-retinal-disease-100384735","NCT04289571","Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease","An Observational Cross-Sectional Study of Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease","* INCLUSION CRITERIA:\n\nTo be eligible, the following inclusion criteria must be met.\n\n1. For the NEI site: Participant must be five years of age or older.\n2. For the USyd site: Participant must be thirteen (13) years of age or older.\n3. Participant (or legal guardian) must understand and be willing to sign the protocol s informed consent document.\n4. Participant must be able to cooperate with the testing required for this study.\n5. Participant must be able to read and speak English.\n\n   a. If participant is a minor, their parent or legal guardian must be able to read and speak English.\n6. For healthy volunteers only:\n\n   1. Participant must not have retinal disease in either eye.\n\nEXCLUSION CRITERIA:\n\nA participant is not eligible if any of the following exclusion criteria are present.\n\n1. Participant is in another investigational study and actively receiving study therapy.\n2. Participant is unable to comply with study procedures.\n\nSTUDY EYE ELIGIBILITY CRITERIA:\n\nThe participant must have at least one eye meeting all inclusion criteria.\n\nSTUDY EYE INCLUSION CRITERIA:\n\n1. Healthy Volunteers Only\n\n   a. Study eye must have visual acuity of 20\u002F20 or better, with or without correction (e.g., glasses or contact lens).\n2. Participants with Retinal Disease Only\n\n   1. Study eye must have retinal disease, defined as retinal dysfunction and\u002For degeneration as previously established by standard clinical methods including perimetry, ERG and imaging.",{"count":374,"type":20},165,[109],"Background:\n\nThe retina is a thin layer of tissue at the back of the eye. Retinal disease usually reduces a person s mobility because it affects how he or she moves through familiar and unfamiliar environments. Researchers want to see if a virtual reality (VR) tool can provide an easier and more accurate way to assess mobility.\n\nObjective:\n\nTo learn if researchers can track changes in mobility in people with retinal disease using a new VR tool.\n\nEligibility:\n\nPeople aged 5 and older with retinal disease that affects their vision, and healthy volunteers.\n\nDesign:\n\nParticipants will have 2-3 clinic visits.\n\nParticipants will wear goggles or sit in front of a screen while sitting. Using a game controller, they will navigate through 4 obstacle courses presented in VR.\n\nParticipants will have a medical history exam. They will answer questions about their family history. They will fill out questionnaires about the vision and mobility issues they have in their daily lives.\n\nParticipants will have a complete eye exam. They will read letters from a chart. Their eye pressure will be measured. Their pupils may be dilated with eye drops. Pictures of their eye will be taken. Lights will be shined in their eyes.\n\nParticipants will take a visual field test. For this, they will look into a dome and press a button when they see a light.\n\nParticipants will have an electroretinogram. For this, they will sit in the dark with their eyes patched. Then their eyes will be numbed with eye drops and they will wear contact lenses while watching flashing lights.\n\nParticipants will have optical coherence tomography. This is a noninvasive procedure. It produces cross-sectional pictures of the retina....",[378,379],"Cone-Rod Degeneration","Rod-Cone Degeneration",[378,379,87,381,382],"BCVA","OCT","2026-03-28",{"date":385,"type":32},"2026-03-31",{"date":387,"type":32},"2023-07-25",{"date":389,"type":20},"2030-12-31",{"name":38,"class":39},""]