Leber-like hereditary optic neuropathy, autosomal recessive 1

MedGen UID:: 1053792
•Concept ID:: CN376811
•: Disease or Syndrome

Synonym:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 38

Gene (location): Gene(s) directly associated with this condition or phenotype.	DNAJC30 (7q11.23)

Monarch Initiative:	MONDO:0958183
OMIM®:	619382

Definition

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 (620569), caused by mutation in the NDUFS2 gene (602985) on chromosome 1q23. [from OMIM]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLeber hereditary optic neuropathy, autosomal recessive
- CROGVLeber-like hereditary optic neuropathy, autosomal recessive 1
- CROGVLeber-like hereditary optic neuropathy, autosomal recessive 2

Leber hereditary optic neuropathy, autosomal recessive
- Leber-like hereditary optic neuropathy, autosomal recessive 1

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Leber-like hereditary optic neuropathy, autosomal recessive 1

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