DR. FAIZA SYED JAFAR

DR. TASNEEM ALHAJ FARHATH, DR.NAYAK VITTAL I

Abstract

Alport Syndrome is a rare disorder of abnormal type IV collagen affecting basement membranes of the glomerulus, cochlea and ocular structures. Here we discuss a case of a young male who presented to the ophthalmology OPD with a history of diminished vision and chronic kidney disease for which he was undergoing dialysis. Detailed history-taking and thorough examination revealed a siginificant family history of chronicrenal disease which proved fatal. Slit-lamp biomicroscopy revealed anterior lenticonus and granular deposits in the macula of right eye. ENT opinion showed bilateral moderate-to-severe sensorineural hearing loss. The clinical signs and symptoms alluded to the diagnosis of Alport Syndrome — a diagnosis which can be easily overlooked in patients with chronic kidney disease unless a thorough eye examination is conducted. Genetic counselling and timely examination of patients and their families can help reduce the morbidity of the complications associated with this condition.