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GTR Home > Conditions/Phenotypes > Leber-like hereditary optic neuropathy, autosomal recessive 2

Leber-like hereditary optic neuropathy, autosomal recessive 2

Synonyms
Leber hereditary optic neuropathy, autosomal recessive 2

Summary

Autosomal recessive Leber-like hereditary optic neuropathy-2 (LHONAR2) is characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients (Gerber et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive Leber-like hereditary optic neuropathy, see LHONAR1 (619382). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CI-49, LHONAR2, MC1DN6, NDUFS2
    Summary: NADH:ubiquinone oxidoreductase core subunit S2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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