High-throughput genetic analysis in a cohort of patients with Ocular Developmental Anomalies

Abstract

Anophthalmia and microphthalmia (A/M) are developmental ocular malformations in which the eye fails to form or is smaller than normal with both genetic and environmental etiology. Microphthalmia is often associated with additional ocular anomalies, most commonly coloboma or cataract [1,2]. A/M has a combined incidence between 1-3.2 cases per 10,000 live births in Caucasians [3,4]. The spectrum of genetic abnormalities (chromosomal and molecular) associated with these ocular developmental defects are being investigated in the current study. A detailed pedigree analysis and ophthalmic examination have