This study is about understanding rare eye diseases called retinal dystrophies, which can cause vision problems. It has two parts: a Registry and a Natural History Study (NHS). In the Registry, scientists collect genetic and health information from people with certain rare genes. This helps identify those who qualify for the NHS. The NHS looks at how these eye diseases develop and change over time.
Key Points:
- The study involves multiple phases with regular visits over up to four years.
- Participants must have specific genetic variants related to retinal dystrophies.
- No new genetic testing is done; prior conclusive genetic reports are reviewed.
To join, participants must be at least 4 years old, willing to take part, and have specific genetic findings from previous tests. They should not have certain eye conditions or treatments that could affect the study results. The study aims to improve future treatments by understanding these diseases better.