DR. JESMI JOSE

DR. ANTHRAYOS C.V. KAKKANATT, DR. BRINDA S, DR. ANN RESHMA RAJAN

Abstract

19year old female presented with left eye blindness and eye deviation since birth. She also complains of smaller sized left eye. Similar history present in mother and uncle. H/o consanguineous marriage present in grandparents.

General and systemic examination was normal. Ophthalmic examination showed left eye esotropia. Left eye-vision no PL, microphthalmos, microcornea(9mm), partial iris coloboma at 7o’clock position with thin inferior rim of iris. Fundus examination showed degenerated chorioretinal coloboma involving disc and macula, in the inferior half of fundus, and pigment clumps in the superior half. Right eye examination was within normal limit.

Consanguineous marriage in grandparents resulted in expression of autosomal recessive traits. Consanguineous marriage can result in expression of silenced recessive traits in offspring and lead to many congenital and genetic disorders.

We should mount public awareness on prevention of consanguineous marriage.