Overview
Gene (OMIM No.) |
|
Function of gene/protein |
|
Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features | Microphthalmia with coloboma 3:
|
Systemic features | Uncommon but a number of cases were reported to have:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
|
Management | OcularSystemic
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Therapies under research |
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Further information |
References
- De Chen, J, Bapat, B, Bascom, R, et al. Identification of a developmentally regulated human retinal homeobox gene. (Abstract) Am. J. Hum. Genet. 1989;45: A111
- Kohn G, el Shawwa R, el Rayyes E. Isolated “clinical anophthalmia” in an extensively affected Arab kindred. Clin Genet
- Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nature Genet. 2000;25: 397-401
- Chassaing N, Causse A, Vigouroux A, et al. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet 2014;86(4):326‐334
- Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014;57(8):369‐380
- Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab. 2011;104(4):448‐456