BEST1-related dominant retinopathy

This study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This study tests a device called PRIMA, which is implanted under the retina to help people with inherited retinal diseases like Stargardt disease and retinitis pigmentosa see better. The trial will enroll 5 adults with severe central vision loss and measure improvements in visual…

This early-stage trial tests a gene therapy called OPGx-BEST1 for two rare inherited eye diseases that cause vision loss. About 10 adults will receive a single injection into one eye to see if it is safe and to find the best dose. The study will follow participants for 5 years to…

This study tests a new eye imaging device (VG200D OCT) that takes detailed pictures of the retina. It compares these images to standard dye-based images (FA/ICGA) to see if the new device works just as well. About 30 adults with retina problems will take part. The goal is to see …

This study tests a special camera that takes detailed images of the retina using many wavelengths of light. Researchers hope it can find early signs of eye diseases like age-related macular degeneration, diabetic retinopathy, and glaucoma. About 1,000 adults in Melbourne, Austral…

This study is testing a new eye imaging device called the VG200D, which uses advanced technology to take detailed pictures of the eye. Researchers want to see if it works as well as a standard device for measuring parts of the eye in people with glaucoma, retina problems, corneal…

This study tests whether adding emotional regulation therapy (ERT) to standard low vision rehabilitation (LVR) helps people with inherited retinal diseases who feel anxious or distressed about their vision. About 180 participants will receive LVR, which includes free vision-enhan…

This study looks at whether disulfiram (Antabuse), a drug used for alcohol use disorder, can improve vision in people with retinal degeneration (like macular degeneration or retinitis pigmentosa). Researchers believe it may calm overactive cells in the retina. The study involves …

This study is creating a large collection of health information and biological samples (like blood, saliva, and eye tissue) from people with and without retinal diseases. Researchers aim to use this database to better understand conditions like age-related macular degeneration an…

This international study aims to collect genetic and health information from 1,500 people with rare inherited retinal diseases like retinitis pigmentosa. It has two parts: a registry to gather genetic and vision data, and a natural history study that follows participants over tim…

This study screens people with eye diseases to see if they can join other research studies at the National Eye Institute. No treatment is given. Participants undergo eye exams, blood tests, and other procedures to diagnose or evaluate their condition. The goal is simply to determ…

This study tests a special camera that takes super-detailed pictures of the back of the eye (the retina). The goal is to see if this technology can find eye diseases earlier than standard methods. Up to 1,000 people aged 12 and older, with or without eye disease, will have their …

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This study uses a special camera called an Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO) to take very detailed pictures of the retina in people with inherited retinal diseases like retinitis pigmentosa. Researchers will measure how the light-sensitive cells in the eye cha…

This study aims to learn more about eye diseases by observing and providing standard care to up to 1,000 people over 5 years. Participants receive regular eye exams, tests, and treatments as needed. The goal is to better understand how eye diseases progress and are inherited, not…

This study looks at how well people with retinal diseases like retinitis pigmentosa and Stargardt's disease see in the dark. Researchers want to find out if measuring dark adaptation can help detect and track these conditions. Healthy volunteers and people with retinal disease ag…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study uses a special camera (adaptive optics) to take detailed pictures of the back of the eye in people with inherited retinal diseases. Researchers want to see how individual cells change over time and after treatments. About 200 participants aged 5 to 70 will be observed,…

This study enrolls 25 people with severe retinal diseases like retinitis pigmentosa and Stargardt disease to test new ways of measuring visual function. Researchers will evaluate how well participants can perform various vision tests, such as navigating obstacles or detecting lig…

This study tests whether artificial intelligence can create simple summaries of eye doctor notes that are easier for patients to understand. About 460 English-speaking adults receiving eye care will get either standard notes or notes plus an AI-generated plain language summary. P…

This study gathers eye scan images from 180 people with healthy eyes or eye diseases like glaucoma and retinal disease. The goal is to collect data using a new optical coherence tomography (OCT) device called A10900. No treatment or medication is given. The information will help …

This study tests a new 4D microscope-integrated OCT system for the first time in people during eye surgery. Researchers want to see if the system is easy to use, safe, and can clearly show eye structures. Five adults having eye surgery will take part. The goal is to improve imagi…

This study is a registry that collects health information from people in Switzerland who have neuromuscular disorders like SMA, DMD, BMD, and others. It aims to track symptoms, treatments, and outcomes over time to help researchers and doctors improve care. No new treatments are …

This study looks at how color vision changes over time in people with inherited retinal diseases (IRDs). Researchers will study 200 participants, including those with IRDs and healthy volunteers, to see how color vision loss relates to changes in the retina's structure. They are …

This study gathers standard eye movement and pupil data from 200 healthy volunteers, children, and people with eye or brain conditions using a VR headset called neos™. The headset shows images and tracks where participants look, how their pupils react, and how their eyes move. Th…

This study tests a new, more comfortable eye camera (WiSLO) designed for children and adults. Researchers want to see if it takes better pictures and is less bothersome than current cameras. About 42 people with or without eye disease will have their eyes photographed with both t…