Genetic study of congenital cataract

ABSTRACT

This study done on 20 patients with congenital cataract and 20 normal subjects as control group There was male predominance. Consanguinity was present in 12 cases [60%], positive family history in 5 cases [25%] and 15 cases [75%] were sporadic, prenatal environmental factors in 5 cases [25%] and 7 cases [35%] with other ocular and systemic anomalies. Pedigrees analysis revealed that autosomal dominant and recessive was the usual mode of inheritance and not the x-linked one. Karyotyping revealed chromosomal anomalies were present in 6 cases[30%] in the form of trisomy 21 in 5 cases and pseudo dicenteric chromosome in one case. These cases were exposed to prenatal environmental factors and/or have other ocular and systemic anomalies