MICROPHTHALMIA: AN IMPORTANT GENETIC EYE DISORDER

Abstract

This young boy, 14 years of age, from tehsil Paroa, district Dera Ismail Khan is a case of bilateral microphthalmia with bilateral opaque corneae . The disease onset was congenital. The patient had no history of deafness and was mentally stable. The patient belongs to an extended consanguineous family with 7 affected individuals presenting the same clinical phenotype. Pedigree analysis indicated that disease is segregated in autosomal recessive fashion. The parents of all affected individuals are asymptomatic.