Cataract 9, Multiple Types

Alternative Names

  • CTRCT9
  • Cataract 9, Multiple Types, with or without Microcornea
  • Cataract, Autosomal Dominant
  • Cataract, Autosomal Recessive Congenital 1
  • CATC1

Associated Genes

Crystallin, Alpha-A
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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

604219

Mode of Inheritance

Autosomal dominant, autosomal recessive

Gene Map Locus

21q22.3

Description

Cataract 9, multiple types is a congenital form of cataract caused by mutations in the CRYAA gene and transmitted in an autosomal dominant pattern.  Cataract is an opacification of the eye lens and causes visual impairment or blindness.  CTRCT9 may be associated with microcornea but without other systemic anomalies.  In addition to cataract of multiple types, affected patients may have microcornea, coloboma of the iris, microphthalmia, decreased visual acuity, nystagmus, strabismus and glaucoma.  

Molecular Genetics

Familial cases of CTRCT9 have been reported in several ethnic groups.  Although the mode of transmission is usually autosomal dominant, some cases of autosomal recessive transmission have also been noted.  The condition is caused by mutations in the CRYAA gene.  This gene encodes alpha-A-crystallin, which is one of the major proteins in the eye that maintains the transparency and refractive index of the lens.  It acts as a molecular chaperone that holds proteins in large soluble aggregates.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604219.1.1Saudi ArabiaFemaleYesYes Developmental cataract; MicrocorneaNM_000394.4:c.160C>THomozygousAutosomal, RecessiveKhan et al. 2007; Khan et al. 2015 Maternal first cousi...
604219.1.2Saudi ArabiaMaleYesYes Developmental cataract; MicrocorneaNM_000394.4:c.160C>THomozygousAutosomal, RecessiveKhan et al. 2007; Khan et al. 2015 Brother of 604219.1....
604219.1.3Saudi ArabiaFemaleYesYes Developmental cataract; MicrocorneaNM_000394.4:c.160C>THomozygousAutosomal, RecessiveKhan et al. 2007; Khan et al. 2015 Sister of 604219.1.1
604219.2.1Saudi ArabiaUnknownYes Developmental cataractNM_000394.4:c.161G>CHomozygousAutosomal, DominantPatel et al. 2017
604219.2.2Saudi ArabiaUnknownYes Developmental cataractNM_000394.4:c.161G>CHomozygousAutosomal, DominantPatel et al. 2017 Relative of 604219.2...
604219.3EgyptYesYes Cataract; Microphthalmia; MicrocorneaNM_000394.4:c.145C>THomozygousAutosomal, RecessivePatel et al. 2018
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