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GTR Home > Conditions/Phenotypes > Isolated optic nerve hypoplasia

Isolated optic nerve hypoplasia

Synonyms
Optic nerve hypoplasia, bilateral
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system. [from ORDO]

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR, PAX6
    Summary: paired box 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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