Clinical Research Directory

* NCLUSION CRITERIA: 1. Participant must be 12 years of age or older. 2. Participant (or legal guardian) must understand and sign the protocol s informed consent document. 3. Participant must be able to cooperate with detailed psychophysics and electrophysiology testing. 4. Participant must be able to provide a blood sample. 5. Participant has: * A maculopathy or retinal degeneration plus two (or more) clear mutations in the ABCA4 gene (ascertained with CLIA-certified testing) that are known to be associated with retinal disease, OR -One clear mutation in ABCA4 associated with a classic presentation of fundus flavimaculatus/Stargardt macular dystrophy (e.g., flecks, macular atrophy) and no pathogenic mutation(s) in other genes known to cause macular dystrophy. OR -One clear mutation in ABCA4, a cone-rod degeneration and no clearly pathogenic mutation(s) in other genes known to cause cone-rod degeneration. EXCLUSION CRITERIA: Participant has evidence of a systemic condition or ocular disease not related to ABCA4 mutations that would complicate the analysis of psychophysical, electrophysiological, or imaging data. For example, a participant with advanced diabetes mellitus and significant diabetic retinopathy may display changes in retinal function that could be related to either his/her diabetic retinopathy or ABCA4 mutations.