Congenital colobomata of the eye are important causes of childhood visual impairment and blindness. Ocular coloboma can be seen in isolation and in an impressive number of multisystem syndromes, where the eye phenotype is often seen in association with severe neurological or craniofacial anomalies or other systemic developmental defects. Several studies have shown that, in addition to inheritance, environmental influences may be causative factors. Through work to identify genes underlying inherited coloboma, significant inroads are being made into understanding the molecular events controlling closure of the optic fissure. In general, severity of disease can be linked to the temporal expression of the gene, but this is modified by factors such as tissue specificity of gene expression and genetic redundancy.
- BMP, bone morphogenetic protein
- CGN, Coloboma Gene Network
- HPE, holoprosencephaly
- MIA, multiple incomplete ascertainment
- RA, retinoic acid
- RPE, retinal pigment epithelium
- SIA, single incomplete ascertainment
- VAD, vitamin A deficiency
- optic fissure
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This work was supported by Birth Defects Foundation (Grant Ref 03/05).
Conflict of interest: none declared.