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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.

Original publication

DOI

10.1136/jmg.2004.025494

Type

Journal article

Journal

J Med Genet

Publication Date

12/2004

Volume

41

Pages

881 - 891

Keywords

Animals, Anophthalmos, Coloboma, Environment, Eye, Eye Proteins, Gene Expression Regulation, Genetic Counseling, Hedgehog Proteins, Homeodomain Proteins, Humans, Microphthalmos, PAX6 Transcription Factor, Paired Box Transcription Factors, Repressor Proteins, Trans-Activators