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In the human embryo, eyes develop through a complex and delicate process. Interruption of this process can lead to malformations of the eye or related structures, resulting in both functional and aesthetic deficits. Congenital ocular malformations are relatively rare, with approximately 5 in every 10,000 live births being affected. These conditions range from having little impact on the life and function of the child to being highly debilitating. Some of the more common malformations include anophthalmia, microphthalmia, coloboma, aniridia, optic nerve hypoplasia, congenital cataracts, corneal opacity, and congenital glaucoma.[1][2][3]
Congenital ocular defects arise through a variety of mechanisms and are associated with many syndromes and diseases. The Pax6 gene has been identified as vital to the initiation and proper progression of eye development. Many genetic mutations and environmental factors are implicated in ocular malformations.