Expansion of eyeGENE Data and DNA Repositories for Rare Inherited Eye Diseases Including Aniridia, Best Disease, and Albinism

What this Trial Is About

Researchers are expanding the eyeGENE program, a research resource focused on inherited eye diseases such as aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, and disorders of pigmentation including albinism. This program collects genetic and clinical data to help understand the genetic causes of these conditions and support the development of better treatments. The study aims to gather more participants with these rare eye diseases and their unaffected close relatives. Participants provide saliva samples using a kit sent to them, which they mail back for DNA analysis. Some may also be asked to provide blood samples, collected either at the National Eye Institute or a local clinic. The study collects phenotypic information, genetic testing results, and eye images, which are stored in the eyeGENE data repository and shared anonymously with researchers studying inherited eye diseases. During the study, participants will contribute data including eye exam results and medical history, with personal identifiers removed to protect privacy. Researchers will use this information to expand the eyeGENE data repository over 30 years, enhance recruitment for clinical trials, and study the relationship between genetics and symptoms for rare eye diseases. Participation involves sample collection and data sharing, with safety monitored throughout the study period.

National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases