J Med Genet 41:881-891 doi:10.1136/jmg.2004.025494
  • Review

Ocular coloboma: a reassessment in the age of molecular neuroscience

  1. C Y Gregory-Evans1,2,
  2. M J Williams2,
  3. S Halford1,3,
  4. K Gregory-Evans1
  1. 1Department of Visual Neuroscience, Faculty of Medicine, Imperial College London, London, UK
  2. 2Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, UK
  3. 3Department of Genomic Medicine, Faculty of Medicine, Imperial College London, London, UK
  1. Correspondence to:
 Dr Cheryl Y Gregory-Evans
 Department of Visual Neuroscience, 8th Floor Laboratory Block, St. Dunstan’s Road, London W6 8RP, UK;
  • Accepted 21 July 2004
  • Revised 20 July 2004


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.


  • This work was supported by Birth Defects Foundation (Grant Ref 03/05).

  • Conflict of interest: none declared.

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