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Ocular coloboma: Genetic variants reveal a dynamic model of eye development

27 Aug 2020

Abstract excerpt

Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina, lens, iris, or optic nerve tissue. With a prevalence of 2-19 per 100,000 live births, coloboma, and microphthalmia, an associated ocular disorder, represent up to 10% of childhood blindness. It manifests due to the failure of choroid fissure closure during eye development, and it is a part of a spectrum of ocular...

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PMID: 32852110
DOI: 10.1002/ajmg.c.31831

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