Temporal macular thinning: a salient sign of Alport syndrome

Abstract

Alport syndrome is a hereditary, multisystemic disorder that causes abnormalities of the ear, kidney, and eye. A teenager who was suffering from end-stage renal failure and hearing problems was referred to us suspected of Alport syndrome. He did not have any ocular complaints and wore glasses for myopic astigmatism. His best-corrected visual acuity was 6/7.5 bilaterally. Anterior segment examination was unremarkable. Posterior segment examination showed perimacular dot-andfleck retinopathy with bull’s eye maculopathy. Optical coherence tomography revealed temporal macular thinning. The findings were in keeping with the diagnosis of X-linked Alport syndrome. Ocular findings can help diagnose Alport syndrome. Early detection and treatment can help delay the progression of kidney failure.