Microphthalmia, Isolated 8

Alternative Names

  • MCOP8
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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

615113

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q26.3

Description

Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age. Isolated microphthalmia-8 (MCOP8) is caused by homozygous mutation in the ALDH1A3 gene on chromosome 15q26. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615113.1United Arab EmiratesFemaleYesYes Anophthalmia ; Iris coloboma; Retinal co...NM_000693.4:c.845G>CHomozygousAutosomal, RecessiveAlabdullatif et al. 2017 Similarly affected s...
615113.2Saudi ArabiaYesYes MicrophthalmiaNM_000693.4:c.1105A>THomozygousAutosomal, RecessivePatel et al. 2018
615113.3Saudi ArabiaYesYes MicrophthalmiaNM_000693.4:c.434C>THomozygousAutosomal, RecessivePatel et al. 2018
615113.4Saudi ArabiaYesYes MicrophthalmiaNM_000693.4:c.434C>THomozygousAutosomal, RecessivePatel et al. 2018
615113.5Saudi ArabiaNoYes MicrophthalmiaNM_000693.4:c.434C>THomozygousAutosomal, RecessivePatel et al. 2018
615113.6Saudi ArabiaYesYes MicrophthalmiaNM_000693.4:c.434C>THomozygousAutosomal, RecessivePatel et al. 2018
615113.7EgyptNoYes MicrophthalmiaNM_000693.4:c.1105A>THomozygousAutosomal, RecessivePatel et al. 2018
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