Microphthalmia, Isolated, with Coloboma 3

Alternative Names

  • MCOPCB3
  • Microphthalmia, Colobomatous, Isolated 3
  • Microphthalmia, Cataracts, and Iris Abnormalities
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

610092

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q24.3

Description

Microphthalmia, isolated with coloboma 3 is a rare inherited disorder characterized by small eyes (one or both) and eye colobomas. The clinical findings are confined to the eye in this condition. The globe is abnormally small (defined by some as less than 20 mm in length in at least one eye). Incomplete penetrance and variable expression are typical but often the cornea is small and may be cloudy with anterior synechia suggesting that anterior chamber dysgenesis may also be a feature in some cases. Visual acuity depends on the structures involved. It is not uncommon for other ocular abnormalities to occur in association with the malformed globes, such as cataracts, microcornea, sclerocornea and optic nerve dysplasia.

Molecular Genetics

MCOPCB3 is caused by mutations in the CHX10 gene on chromosome 14q24.3. CHX10 plays a significant role in the specification and morphogenesis of the sensory retina. It may also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610092.1United Arab EmiratesMaleNoYes Bilateral microphthalmos; Developmental ...NM_182894.3:c.599G>CHomozygousAutosomal, RecessiveFerda Percin et al. 2000

Other Reports

Syria

In affected members of a consanguineous Jewish Syrian family from Aleppo with microphthalmia/clinical anophthalmia and colobomas of the iris, Bar-Yosef et al. (2004) identified homozygosity for a splice site mutation (IVS1-1G>A) in the CHX10 gene.

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