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Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from OMIM

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). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD6 have been reported with the Peters anomaly subtype. Peters anomaly consists of corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood (summary by Vincent et al., 2001).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Corneal opacity
  • Corneal neovascularization
  • Posterior synechiae of the anterior chamber
  • Glaucoma of childhood
  • Abnormal Descemet membrane morphology

Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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