DR. PRANOYA BAISHYAKH

DR. CHANDANA KAKATI

Abstract

A 19 year old male presented with diminution of vision b/e for 10years. His vision was 6/60 with pinhole vision of 6/24 on both eyes. On examination, he had anterior lenticonus (L>R) with right macular specks on funduscopy. He had mild sensory neural hearing loss,bony deformities including genu valgum. Urinary complications such as renal parenchymal changes with chronic cystitis was found although urine R/E showed no hematuria. His Hb=5.32g/dl(low), PTH=383.5microgm/dl(high), Se.Creat=7.10(high). Orthopaedic and Nephrology opinion was taken and diagnosis was found to be Autosomal Recessive Alports syndrome. Patient was treated conservatively with BCVA correction of 6/18 (b/e) with glasses. Further management was done from Nephrology department. Patient is presently doing fine and is on follow-up. To conclude, Alport syndrome can first present as Ophthalmology cases with visual defect but a high index of suspicion and adequate diagnosis can guide these patients to a proper management.