“Blink and you'll miss it”- A case report of Alport syndrome

Abstract

Alport syndrome is a rare disorder of abnormal type IV collagen affecting basement membranes of the glomerulus, cochlea, and ocular structures. A young male presenting with characteristic ocular signs as well as systemic manifestations of Alport syndrome. The diagnosis of Alport syndrome can be easily overlooked in patients with chronic kidney disease, unless a thorough eye examination is conducted. Genetic counseling and timely examination of patients and their families can help reduce the morbidity of the complications associated with Alport syndrome.