Review of evidence for environmental causes of uveal coloboma

Abstract

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Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species

“…Within these disorders, ocular coloboma (OC) is the most common and considered part of the clinical phenotypic spectrum, along with anophthalmia (a completely missing eye) and microphthalmia (a small, underdeveloped eye), together referred to as MAC. The developmental insults that cause MAC are mostly genetic but may also be influenced by environmental factors [4][5][6]. They occur early in gestation and typically affect the morphogenesis and structural development of the optic vesicle (anophthalmia) or eye cup (microphthalmia and coloboma) [7].…”

Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species

“…Within these disorders, ocular coloboma (OC) is the most common and considered part of the clinical phenotypic spectrum with anophthalmia (completely missing eye) and microphthalmia (small, underdeveloped eye), together referred to as MAC. The developmental insults that cause MAC are mostly genetic but may also be influenced by environmental factors [4][5][6]. They occur early in gestation and typically affect the morphogenesis and structural development of the optic vesicle (anophthalmia) or eye cup (microphthalmia and coloboma) [7].…”