Dr.Ranjitha K G

Dr.Meenakshi Vepa, Dr.Sheela Deep Viswanadhapalli, Dr.KARISHIMA KHILAR

Abstract

Study design: A CASE REPORT
INTRODUCTION:Alport Syndrome is an inherited disease characterised by progressive renal failure, hearing loss, and ocular abnormalities. Mutation in COL4A5( X linked) or COL4A3 and COL4A4(Autosomal recessive) genes result in absence of collagen IV α3α4α5 network from basement membranes of cornea, lens capsule and retina.

25 year old female presented with diminution of vision in BE since 5years.Which is associated with early onset end stage renal disease and hearing loss in both ears and hypothyroidism
On examination: visual acuity of 6/36 RE and 6/12 LE not improving with pin hole. Anterior segment examination showed both eyes anterior lenticonus with early lenticular opacity and in retro illumination oil droplet reflex and Fundus showed peripheral flecks RE>LE with BE foveal reflex being dull. OCT BE macula showed lamellar hole with Gross thinning of RNFL and GCC. Her blood urea was 174 mg/dl and serum creatinine was 12.6 mg/dl. Hemoglobin was 7.4 mg/dl