Evaluation and Treatment of Patients With Inherited Eye Diseases

This "Evaluation and Treatment Protocol" will allow the geneticists and ophthalmic genetic specialists at the NEI to identify, follow and provide "standard of care" treatment to patients with genetic eye disease. The primary purpose of the protocol is to accumulate a cohort of patients with genetic eye disease for possible participation in NEI studies. A secondary purpose is to provide long-term follow-up and treatment for a variety of genetic eye diseases so that the genetic specialists at NEI will be better able to identify research hypotheses about these diseases in addition to maintaining their clinical skills. The availability of cohorts of patients with a spectrum of genetic disorders will be valuable for the training of fellows in ophthalmic genetics, an important mission of the NEI. Finally, the ability to provide long-term follow-up and care will also facilitate referral efforts for new NEI protocols. The genetic specialists at the National Eye Institute will be free to choose those genetic conditions that interest them. However, the total number of patients that can be enrolled in the protocol will be restricted. This protocol is not designed to test any new treatments. Any evaluations or treatment under this protocol will be based on the current standard of care for each genetic condition. Participants in this patient evaluation and treatment protocol will be evaluated for potential eligibility in any new NEI clinical studies as they are developed. If eligible, patients may be asked to participate in the new protocol. However, they will not be required to enter any protocol and their decision to participate will be entirely voluntary. No more than 150 patients will be accepted in this "Evaluation and Treatment Protocol."