Vitelliform macular dystrophy 2

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 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 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 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 …