Brittle cornea syndrome—A rare genetic disease

Abstract

To report a case of an 8-year-old girl who presented with bluish discoloration of sclera, keratoconus, and progressive high myopia. She had a history of recurrent shoulder dislocation. A general physical examination showed a midfacial hypoplasia, upturned nares, thick and tented upper lip, and hyperextensible joints. The genetic analysis showed ZNF469 mutation suggestive of Brittle cornea syndrome 1 (BCS-1). We aim to highlight the importance of timely diagnosis and early provision of protective glasses seems to be the most important step in treating BCS.