DR. KHYATI SHAH

DR.SHREYAS RANJIT SHAH, DR. LUBHANI JAIN, DR.KULIN J KOTHARI

Abstract

A 13 year old boy presented for routine eye examination. His best corrected visual acuity was 6/6, N6 with retinoscopy of -0.50/-1.50 @ 180 in both eyes. Anterior segment examination was normal. Dilated fundus examination showed characteristic scattered chorioretinal lesions in the periphery suggestive of Gyrate Atrophy. Visual fields revealed constriction of visual fields. His plasma Ornithine levels was marginally elevated. Clinical exome sequencing revealed homozygous variant of uncertain significance in Ornithine aminotransferase gene (OAT) known to be associated with autosomal recessive “gyrate atrophy of choroid and retina with or without ornithemia.” The child was advised moderate arginine restricted diet, oral lysine and oral pyridoxine. The report highlights the importance of detailed eye examination and genetic examination for identification and treatment of such pathology. Timely dietary modifications will help in altering the visual outcome of this condition.