Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum.

Abstract

To describe previously unreported retinal findings in patients with Alport Syndrome (AS), as well as review the range of ophthalmic manifestations. Retrospective review of clinical records of patients with AS. Nine patients with AS were identified, of whom three had no eye findings, four showed classic features of AS, and two had new findings, bull's eye and vitelliform maculopathy. The genetic mutation responsible for the disease in the patient with vitelliform subretinal deposits was identified. Patients with AS can present with a variety of ophthalmic manifestations. Bull's eye maculopathy and vitelliform deposits can be features of AS. The mechanism of these new macular findings remains unknown. Possible pathophysiological overlap with other maculopathies including age-related macular degeneration is discussed.