PUBLICATION
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes
- Authors
- George, A., Cogliati, T., Brooks, B.P.
- ID
- ZDB-PUB-200208-13
- Date
- 2020
- Source
- Experimental Eye Research 193: 107940 (Review)
- Registered Authors
- Brooks, Brian P.
- Keywords
- none
- MeSH Terms
-
- Abnormalities, Multiple/genetics*
- Animals
- Ataxia/genetics*
- Brain/abnormalities*
- Cholestasis/genetics*
- Coloboma/genetics*
- Genetic Predisposition to Disease*
- Humans
- Liver Diseases/genetics*
- Uvea/abnormalities*
- PubMed
- 32032630 Full text @ Exp. Eye. Res.
Citation
George, A., Cogliati, T., Brooks, B.P. (2020) Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. Experimental Eye Research. 193:107940.
Abstract
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 prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping