Anterior Segment Dysgenesis 7

Alternative Names

  • ASGD7
  • Corneal Opacification With Other Ocular Anomalies
  • COPOA
  • Sclerocornea With Other Ocular Anomalies

Associated Genes

Peroxidasin
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

269400

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p25.3

Description

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral. Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
269400.1Saudi ArabiaUnknown Developmental cataract; Peters anomalyNM_012293.3:c.1018+1G>AHomozygousAutosomal, RecessivePatel et al. 2017
269400.2EgyptYesYes MicrophthalmiaNM_012293.3:c.4085_4086delHomozygousAutosomal, RecessivePatel et al. 2018
269400.3EgyptYesYes MicrophthalmiaNM_012293.3:c.3609-1G>CHomozygousAutosomal, RecessivePatel et al. 2018
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