Eye Diseases

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. People 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. Participants undergo various tests and procedures to diagnose or evaluate their eye disease. The procedures may include the following: * Personal and family medical history * Physical examination and blood tests, including genetic testing. * Eye examination with dilation to measure visual acuity and eye pressure and to examine the front and back parts of the eye. * Questionnaire about vision and daily activities. * 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. * 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. * 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. * Optical coherence tomography to measure retinal thickness: A machine used to examine the eyes produces cross-sectional pictures of the retina. * 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. * 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.

The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A\>G (p.Cys998X) mutation in the CEP290.

Background: \- 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. Objectives: \- To study if adaptive optics can help find better ways to diagnose, treat, and manage retinal diseases. Eligibility: * People over age 12 with an eye disease. * Healthy volunteers over age 12. Design: * Participants will be screened with medical history and eye exams. These may include dilating pupils and taking pictures of the eyes. * Participants will have 1 or more study visits. They will have: * Medical and eye history. * Questions about their medications. * Eye exam including pupil dilation. * 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. * They may also have: * More images. * Perimetry. Participants look into a lens and press a button when they see a light. * Color vision tests. * 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.

The Proactive Ophthalmic Examination Cohort of Older Adults is a prospective cohort study recruiting community-dwelling older adults aged 65 years or older. Through comprehensive assessment of demographic profiles, medical histories, and ocular structural and functional parameters, alongside systematic collection of ophthalmic and systemic clinical data and biological specimens, we will establish a multidimensional, high-quality ocular health database encompassing demographic characteristics, socioeconomic factors, lifestyle variables, ocular disease risk factors, subjective ocular symptoms, objective examination findings, and biospecimens. The study will investigate the onset and progression patterns of ocular diseases, associated risk factors, and mechanisms of ocular aging in older populations, while simultaneously providing normal-controlled clinical and genomic data for other clinical studies on eye diseases. Furthermore, leveraging algorithmic innovation and artificial intelligence technologies, we will develop a personalized risk prediction and monitoring platform for age-related eye diseases, enhancing early screening and diagnostic capabilities and advancing precision medicine for ocular health in older adults.

The centre of the retina (macula) at the back of the eye contains cells that give us our central vision that we use for reading and recognising faces. These cells can be damaged by a disease called wet age-related macular degeneration (AMD), where new abnormal blood vessels grow through the macula and leak fluid. This can affect vision. In some cases, wet AMD can also cause a bleed under the macula, known as a submacular haemorrhage (SMH), which can lead to marked and persistent loss of vision in the eye. The current standard treatment for wet AMD is to give injections containing 'anti-VEGF' drugs into the eye. Anti-VEGF drugs reduce the leakage of fluid so that the macula can become dry again and sight can improve. Anti-VEGFs are also the current standard of care for SMH, mainly because there is no licensed treatment for the SMH itself (patients with SMH were excluded from most wet AMD studies). The purpose of this study therefore is to compare two treatments: 1. Standard treatment for wet AMD (anti-VEGF injections). 2. Standard treatment above plus surgery. This study will find out if having surgery alongside anti-VEGF injections can improve vision further over the current standard treatment of anti-VEGF injections alone.

The Boston keratoprosthesis (KPro) is a special plastic device that is used to replace a sick cornea (transparent part of the eye, in front of the iris) in order to restore vision in patients who have failed traditional corneal transplants or have a very poor prognosis of success. Glaucoma is a chronic disease which causes optic nerve damage secondary to high pressure inside the eye and could lead to vision loss in the long term. Glaucoma is highly prevalent in patients who require a KPro and even more after their procedure. In order to decrease the intra-ocular pressure, surgeons can use multiple eyedrops. Unfortunately, following the KPro surgery, eyedrops lose their efficiency because they are less absorbed by the eye. The transscleral cyclophotocoagulation (TS-CPC) is a laser treatment used in advanced refractory glaucoma. This laser helps decrease the intra-ocular pressure and have a better control of the disease. There are different methods of laser transmission, including the continuous transmission (G-Probe) and the micro-pulsation method (Micopulse). Given the high prevalence of glaucoma in patients receiving a KPro, the investigators are studying the effect of giving the TS-CPC treatment prophylactically to patients before their Boston keratoprosthesis. Our hypothesis is that prophylactic TS-CPC will decrease glaucoma progression as well as the risks of developing glaucoma following the Boston keratoprosthesis . METHOD The investigators aim to recruit twenty (20) patients who are scheduled to receive Boston KPro. Participants will be randomized into two groups: 1) Groupe 1 will receive a prophylactic treatment of transscleral cyclophotocoagulation a G-Probe. 2) Groupe 2 will receive a prophylactic treatment of transscleral cyclophotocoagulation with a micropulse transmission (MicroPulse). The patients will receive their laser treatment by a glaucoma specialist 4 to 8 weeks before their KPro surgery. One week following their laser treatment, the participants will be examined by their glaucoma specialist. Following their KPro surgery, patients will have a follow-up at day-1, weeks 1 and 2, months 1 and 3, then every 4 to 6 months for 5 years. Additional non-invasive glaucoma tests will be performed twice during the first 3 months following the surgery and will be repeated every 4-6 months. Visual acuity results, the visual field tests and rates of post-operative complications will be compared between the different groups.

This natural history study of patients with EYS mutations from Russia and former CIS (Commonwealth of Independent States) territories will accelerate the development of outcome measures for clinical trials. Sensitive, reliable outcome measures of retinal degeneration will greatly facilitate development of treatments for retinitis pigmentosa due to EYS mutations. This approach helps to develop experimental treatment protocol, and assessing its effectiveness. The goals and expected impact of this natural history study are to: 1. Describe the natural history of retinal degeneration in patients with biallelic mutations in EYS gene in Russia and former CIS territories. 2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal degeneration in Russia and former CIS territories. 3. Identify well-defined subpopulations for future clinical trials of investigative treatments for EYS-related retinal degeneration in Russia and former CIS territories.

This study aims to find out whether adding sodium hyaluronate, a moisturizing ingredient commonly found in artificial tears, makes autologous serum eye drops more effective for treating moderate-to-severe dry eye disease. Each participant will use one version of the drops in one eye and the standard version in the other eye. The goal is to see if the new combination provides better relief, comfort, and eye surface healing compared to the traditional formulation.

The primary objective of this randomized clinical trial is to determine whether repeat trichiasis surgery performed with Bevel-Rotate Advancement Procedure (B-RAP) improves surgical success compared to Bilamellar Tarsal Rotation (BLTR) among a group of 8-10 TT surgeons in Tanzania. The study aims to enroll 1,000 individuals with PTT. The primary outcome is repeat PTT within one year after surgery. Additionally, the study will assess eyelid contour abnormalities and how they change over a two-year period as well as patient reported outcomes. If this project is successful in improving surgical outcomes, it could change the approach to treating PTT globally. Individuals with trichiasis have a significantly reduced quality of life; correcting their trichiasis long-term has the potential to improve their quality of life and their family members' quality of life considerably.

The goal of the current study is to conduct a pilot study to test a new version of the handheld OCT device capable of auto-alignment to image the retina in adult volunteers, and adult and pediatric patients in clinic.

The objective of this application is to illustrate the core constituents of the ocular surface microbiome, describe factors that promote colonization, and assess the ocular microbiome's role in the health of the anterior segment. We will conduct a prospective, observational cohort study, including a longitudinal analysis of the ocular microbiome in adults.

AMD is a leading cause of blindness in individuals over 50 years old, with dry AMD being the most common form. Geographic atrophy (GA) is an advanced stage of dry AMD characterized by progressive retinal cell degeneration. The primary objectives of the study are to assess the safety, tolerability, and evidence of activity of SGLT2 inhibitors in subjects with Geographic Atrophy associated with AMD.

To compare eye disease detection rates at a Federally Qualified Health Center between a technology-enhanced protocol and standard optometric clinical examination for three of the leading causes of blindness: glaucoma, diabetic retinopathy, and visually significant cataract.

To determine the efficacy of switching participants who are being treated with Xiidra to acoltremon 0.003%. Hypothesis: Switching to acoltremon 0.003% will greatly improve the signs and symptoms of participants who were being treated with Xiidra at 28 days post-treatment compared to baseline.

This 1-month, 3-visit study will be conducted at the Southern College of Optometry (Memphis, TN), Kannarr Eye Care, LLC (Pittsburg, KS) and Complete Eye Care of Medina (Minneapolis, MN). Adults ≥18 years of age who have been diagnosed with DED for at least 6 months and who are currently symptomatic (Eye Dryness VAS Score ≥40) will be recruited. Subjects will have an abnormal Schirmer test of \<10 mm/5 min. Subjects will also be required to score ≤70 on the IDEEL Quality of Life (QoL) Work domain to ensure that their DED symptoms are significantly impacting their ability to do work.9 Subjects will be required to have corrected distance visual acuity of 20/32 (0.2 logMAR) or better.

Switching to acoltremon 0.003% will significantly improve the signs and symptoms of participants who were being treated with Restasis at 28 days post-treatment compared to baseline. Dry eye disease (DED) is a prevalent condition that commonly affects patients of working age in addition to the elderly. DED is a complex condition that results in ocular symptoms such as dryness and burning and signs such as decreased tear production (aqueous deficient DED) or increased tear evaporation (evaporative DED). Unfortunately, there is not a perfect correlation between DED signs and symptoms, which makes diagnosis and timely treatment challenging.

The goal of this observational study is to test the use of a novel Widefield Confocal Scanning Laser Ophthalmoscope (WiSLO) Optimized for Pediatric and Neonatal Imaging in pediatric and adult subjects who are undergoing clinical evaluation for eye disease or are healthy adult volunteers. The main questions to answer are: * Whether WiSLO will be more comfortable and satisfactory in experience for the patient and operator than commercial alternatives. * If the quality of WiSLO near infrared images will be comparable to color fundus camera imaging across population of different ages and fundus pigmentation. Participants will have the following research procedures: * Imaging of both eyes with a research noncontact WiSLO * Imaging of both eyes with a commercially available non-contact hand held fundus camera (Volk Pictor Plus) * Likert scales for adults * Pediatric Likert scales for children * CRIES scales for infants.

This trial will study the safety and efficacy of intravenous and sub-tenon delivery of cultured allogeneic adult umbilical cord derived mesenchymal stem cells for the treatment of non-arteritic ischemic optic neuropathy

The overall study objective is to continue to assess the efficacy, safety, pharmacokinetics, and pharmacodynamics of linsitinib in subjects who were enrolled in the prior VGN-TED-301 through Week 24. These subjects include VGN-TED-301 Week 24 proptosis non-responders or subjects who relapse during the Follow-Up Period of VGN-TED-301.

The goal of the work: is to assess the patterns of eye diseases in patients attending the eye investigation unit of Sohag University Hospital.organize the community education. The main question it aims to answer is * DOES eye disease blindness prevalence rate increase in women more than men? * What is the rate of glaucoma and other ocular diseases that causes irreversible blindness among the attending patients? Patients attending to the eye investigation unit of Sohag University Hospital in the period from January 2025 to December 2025 are being observed in this work to determine the eye diseases prevalence.

The cornea plays a fundamental role in vision, being a complex tissue essential for ocular health. In ophthalmological practice, there are situations such as corneal crosslinking, where damage to the corneal epithelium occurs. Crosslinking is a surgical procedure aimed at strengthening collagen bonds in the corneal stroma to prevent the progression of keratoconus, through the application of topical riboflavin followed by ultraviolet (UV-A) radiation. To enhance the effectiveness of riboflavin and UV-A radiation, the corneal epithelium needs to be removed, which can cause postoperative pain and discomfort, as well as increase the risk of complications such as infections, scarring, corneal opacities, perforations, and recurrent epithelial erosions. Several growth factors play a role in epithelial healing, and the discovery of insulin in the tear film and the presence of insulin and Insulin-Like Growth Factor (IGF-1) receptors in the cornea has raised the hypothesis that insulin may modulate the cornea's wound healing response. Since then, topical insulin has been used for various ocular pathologies, including dry eye disease, persistent epithelial defects, and neurotrophic ulcers. Based on this knowledge, studies have been developed, and promising results regarding the use of insulin in corneal healing have been reported, providing a scientific foundation for the realization of this project. The objective of this study is to evaluate the effect of insulin eye drops at a concentration of 50 IU/ml on epithelial healing in non-diabetic patients undergoing epithelial debridement for corneal crosslinking. To this end, a randomized, double-masked clinical trial will be conducted with two groups, one being the control group, in which researchers will compare the epithelial healing rate in mm²/h between the insulin group and the placebo group, as the primary outcome. Patients diagnosed with keratoconus and with an indication for the crosslinking procedure, will be invited to participate. As a result of the study, it is expected to assess and quantify the impact of topical insulin on epithelial defect closure in patients undergoing crosslinking, compared to placebo. Topical insulin may contribute to early epithelial defect closure, control of inflammation, and prevention of complications that could significantly impact visual quality.

PARADIGM study, funded by the PNRR research grant, will focus on Eye Diseases (ED) and Neuro-Muscular Diseases (NMD) as groups of genetically heterogeneous diseases which are extensively studied by the Partners partecipating in the project; indeed ED and NMD are well clinically and molecularly characterized and approachable by drug-testing options already assessed and implemented by PARADIGM partners. ED and NMD represent good and compatible disease models as: * both are genetically heterogeneous disorders where missing heritability is likely to be hidden in non-coding variants; * many of the individual genes accountable for the ED and NMD cause autosomal recessive forms, increasing the chance of finding regulatory/splicing variants

In recent years, artificial intelligence (AI) has been widely integrated into the medical field, contributing in particular to improved patient diagnosis. The BONSAI study, Brain and Optic Nerve Study with AI, in which our team is participating, has successfully demonstrated the ability of AI to identify individual neuro-ophthalmological or neurological pathologies affecting the optic nerves and/or brain, from a simple fundus image. While this is a promising advance, it remains limited in current clinical practice. Our major challenge is to be able to identify a wider range of optic nerve and/or brain pathologies simultaneously in the same analysis, so as to improve patient management, especially for those referred to emergency departments. Indeed, in the absence of a precise diagnosis, complications can be irreversible and life-threatening. Among the most alarming clinical signs in the emergency department is papilledema of stasis, which, accompanied by acute headaches, may indicate the presence of intracranial hypertension, inflammatory or ischemic pathology. The latter may be a manifestation of Horton's disease. Our team has developed an AI algorithm to diagnose retinal and optic nerve abnormalities based on retinophotographs taken under ideal conditions during scheduled consultations, and not on images of patients presenting to the emergency department. In hospitals without ophthalmology emergency departments, it is essential that emergency physicians (emergency physicians, general practitioners, neurologists) are able to assess the fundus in the absence of an ophthalmology specialist. This assessment, although part of the general examination, often presents challenges for non-ophthalmologists. The aim of our study is to improve the performance of our AI algorithm so that it can discriminate between different retinal and optic nerve pathologies in the emergency department. We therefore plan to build a database of fundus images by prospectively including patients presenting to the ophthalmology and neurology emergency departments of the Fondation Adolphe de Rothschild Hospital. The performance of the algorithm developed will be evaluated according to standard criteria of sensitivity, specificity, area under the curve (AUC) and accuracy.

The goal of this clinical study is to evaluate the safety and efficacy of novel stem cell formulation in patients having Geographic Atrophy (GA) Secondary to Dry Age-related Macular Degeneration (d-AMD). The main questions it aims to answer are: * Safety and tolerability of the novel stem cell formulation * Potential efficacy of the novel stem cell formulation Participants will receive a single subretinal injection in their study eye and followed up for safety. This is an India only study and the product is developed indigenously.

Rare Eye Diseases (RED) are the leading cause of severe visual impairment/ blindness (SVI/B) in children in Europe. This sensory disability with its accompanying psychological distress hugely impacts their lives and their families. Understanding this impact, at a patient centred level, is key in care, in shared decision making, in developing therapies, and in improving social integration and participation about the standard rules of the United Nations (UN) and the European Union (EU) (prevention, non-discrimination, equal opportunities, accessibility, etc.). However, current tools to evaluate vision related (VR) quality of life (QoL) VR-QoL disregard age and cultural differences. There is a lack knowledge on how the disease matters at child's level. Instruments capable of yielding high-quality data, psychometrically robust and comply with regulatory requirements remain to be developed. To fill this gap, SeeMyLife will use multilevel concurrent mixed method research combining quantitative studies and qualitative studies. The quantitative approach is based on (i) cross culturally translated validated VR-QoL questionnaires for children and teenagers (Functional Vision Questionnaire for Children and Young People - FVQ-CYP and Vision-related Quality of Life Questionnaire for Children and Young People - VQoL-CYP) and (ii) on caregiver's questionnaires addressing participation and environment (Participation and Environment Measure - Children and Youth - PEM-CY). To fully capture the picture of the child/teenager personal life the investigators will reinforce their investigations by in depth qualitative socio-anthropologic study with semi directive field interviews and fieldwork (to observe closely the living conditions of the children) to address how their impairment affects their wellbeing, social integration, and how they feel about medical and social interventions. Data analysis will use an integrated mixed method strategy to validate the quantitative tools and deliver a holistic QoL transnational tool. The SeeMyLife project will provide (i) robust patient self-reported tools that will be then used in care and research (especially with the rise in novel therapies) as a standard as well as (ii) highly awaited knowledge about the SVI/B patient's position within his own life course, within his family and in relation to health and social care actors.