2014 ACMG: Exome Sequencing in 20 Probands with Developmental Eye Defects Identifies Causative Mutations in Five Cases and Demonstrates Genetic Heterogeneity

Anophthalmia (absent eyes)/microphthalmia (small eyes) (A/M) is found in 3 per 10,000 live births and is a clinically heterogeneous birth defect for which the gene@c e@ology remains incompletely understood. A/M can occur as an isolated malforma@on (simplex A/M), or with addi@onal ocular abnormali@es affec@ng the anterior or posterior segments of the eye (complex A/M). Complex A/M can include defects such as coloboma, or failure of the op@c fissure to close, cataracts and anterior segment dysgenesis (ASD), an eye defect with maldevelopment of the anterior ocular structures behind the cornea and in front of the lens, including the iris, ciliary body and trabecular meshwork.