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Anterior segment dysgenesis 8

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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 (summary by Cheong et al., 2016).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

4

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Genes

External Links

  • OMIM

    617319

  • Orphanet
  • HPO
  • Medgen

    C4310622

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