DR. HIRIKA GOSALIA

DR.AMRUTHA SINDHU, DR.ARJUN VELAYUDHAN NAIR

Abstract

We present a case of 3 siblings born to parents with history of 3rd degree consanguineous marriage having long slender digits with hyper extensible small joints. The ophthalmic examination of the elder sibling revealed visual acuity(VA) of 6/12 in right eye(RE) & 1/60 in left eye(LE). History of multiple corneal pathologies and surgeries was present. The second sibling had VA 6/18 in RE & 6/12 in LE with history of corneal tear repair with secondary glaucoma and myopia. The third sibling had VA 3/60 in RE & 6/6 in LE.RE had spontaneous DMD which improved with conservative management while LE thin cornea was maintained with protective glasses; diagnosis of Brittle cornea syndrome(BCS) was made. It is an autosomal recessive disorder showing ocular features of extreme corneal thinning, spontaneous corneal rupture, scleral thinning, progressive myopia, secondary glaucoma & retinal detachment. We aim to highlight the importance of early diagnosis & treatment of patients suffering from BCS.