This study looks at eye problems called retinal dystrophies, which are caused by rare genetic changes. It has two parts: a Registry and a Natural History Study. The Registry collects genetic and health data from people with these rare genes. The Natural History Study follows the health changes over time in people with specific genes to learn more about how these genes affect the eyes.
If you join, your past genetic test results will be reviewed, but no new genetic tests will happen. If your genetic report matches the study's criteria, you'll join the Registry. Depending on your gene, you might get annual phone calls or be asked to visit the clinic more often.
Key Points:
- Participants need to be 4 years or older with a specific genetic report.
- Study involves regular phone calls or clinic visits over a few years.
- No new genetic testing in the study; it's based on previous reports.
This study aims to help find better ways to treat eye problems caused by rare genetic changes.