Clinical Research Directory

Inclusion Criteria: 1. Male and female subjects between 8 and 50 years of age at the time of enrolment. 2. Willingness to adhere to the protocol as evidenced by written informed consent if the subject is 18 years or older. If the subject is under 18 years of age, written assent must be obtained from the subject and written informed consent must be obtained from the subject's legally authorized representative (parent or legal guardian). 3. Confirmed mutation in the ABCA4 gene. Exclusion Criteria: 1. History of uveitis. 2. Any ocular disease in either eye that may confound assessment of the retina morphologically and functionally. 3. Any pathology of the posterior segment other than ABCA4 retinopathy. 4. Presence of any other genetic mutation(s) that have been associated with retinal or macular dystrophy.