Unusual presentation of Alport syndrome-a case report

Alport syndrome is a rare, inherited disease characterized by progressive nephritis, sensorineural hearing loss and ocular anomalies. Kidneys are usually affected first and patients generally present with hematuria, proteinuria and hypertension. We report a patient with previously undiagnosed Alport syndrome, who presented with sudden onset of decreased vision in both eyes as the initial manifestation.A 19-year-old male developed bilateral, sudden decrease in vision. On initial evaluation, grade IV hypertensive changes were noted in the fundus, and he was referred to a physician. On further evaluation, he was found to have malignant hypertension and renal failure, and was treated as a case of chronic renal failure of unknown origin. Later, on detailed ophthalmic evaluation at our centre, he was found to have myopic refraction and bilateral anterior lenticonus, with fundi showing resolving disc and macular edema, sub-retinal precipitates at the posterior pole, narrowed retinal arteries, and macular and mid-peripheral retinal flecks. On reviewing the history, the patient was found to have hearing loss from childhood. In view of the presence of bilateral anterior lenticonus, and macular and mid-peripheral retinal flecks, with history of hearing loss, renal failure and hypertension, the diagnosis of Alport syndrome was made. CONCLUSION Bilateral, sudden decrease in vision is unusual as the initial presentation of Alport syndrome. Ophthalmologists and physicians should be aware of this rare presentation of the disease.