Leber-like hereditary optic neuropathy, autosomal recessive 1

Synonyms: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 38

Summary

Autosomal recessive Leber-like hereditary optic neuropathy-1 (LHONAR1) is characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. The visual field defect is typically in the central visual field. The disorder shows incomplete penetrance and male predominance (Stenton et al., 2021). Genetic Heterogeneity of Autosomal Recessive Leber-like Hereditary Optic Neuropathy See also LHONAR2 (620529), caused by mutation in the NDUFS2 gene (602985) on chromosome 1q23. [from OMIM]

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DNAJC30
7 tests
Also known as: LHONAR, LHONAR1, MC1DN38, WBSCR18, DNAJC30
Summary: DnaJ heat shock protein family (Hsp40) member C30

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