Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
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ABSTRACT:
SUBMITTER: George A
PROVIDER: S-EPMC7310839 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Publications
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
George Aman A Cogliati Tiziana T Brooks Brian P BP
Experimental eye research 20200204
Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two pro ...[more]
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