Bull’s eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch’s membrane in Alport syndrome

Abstract

Background and Objectives: The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. Methods: We identified a case of bull’s eye maculopathy 20 years previously in a 68-year-old female, and reviewed archived retinal images from our cohort of X-linked (28 males, 28 females) or autosomal recessive (n = 13) Alport syndrome. All individuals had Alport syndrome confirmed on genetic testing or renal biopsy, were examined by an ophthalmologist, and underwent retinal imaging (KOWA non-mydriatic camera, Japan). Results: The index case had the p.Q379X variant in COL4A5 and c..