Alport Syndrome with Progressive Decrease in Retinal Thickness: A Case Report

Abstract

Purpose: To report a case of progressive decrease in retinal thickness in a pediatric patient diagnosed with Alport syndrome. Case summary: An 11-year-old boy diagnosed with Alport syndrome underwent ophthalmic examination. At the time of the first visit, his corrected visual acuity was 20/20 in the right eye and 20/20 in the left eye. No abnormalities in the lens were observed in slit-lamp biomicroscopy. On fundus examination, there was parafoveal dot-and-fleck retinopathy in both eyes. Optical coherence tomography showed no thickness reduction in retinal nerve fiber layers, but a thinner retina was found on the temporal side on macula comparison with the nasal side. He was followed regularly for 8 years. Corrected visual acuity of 20/20 was maintained in both eyes and no abnormality in the lens was observed on slit-lamp biomicroscopy, but optical coherence tomography showed a progressive decrease in retinal thickness. Conclusions: This is the first reported case of progressive decrease in retinal thickness in an Alport syndrome patient without lens abnormalities. Alport syndrome patients should undergo regular fundus examination and optical coherence tomography even when lens abnormalities are absent.