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GTR Home > Conditions/Phenotypes > Optic atrophy 16

Optic atrophy 16

Summary

Optic atrophy-16 (OPA16) is an autosomal recessive disorder characterized by a Leber hereditary optic neuropathy (LHON)-like isolated optic neuropathy and mild sensorineural hearing impairment (Fiorini et al., 2023). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-63, DYTOABG, ETR1, FASN2B, NRBF1, OPA16, MECR
    Summary: mitochondrial trans-2-enoyl-CoA reductase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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