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Leber hereditary optic neuropathy (Leber optic atrophy, LHON)
Epidemiology:
- predominantly in young men
Pathology:
- retinal degeneration
Genetics:
- maternally inherited disease (mitochondrial gene)
- associated with defects in MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-ATP6, MT-CO1, MT-CO3
Clinical manifestations:
- acute bilateral blindness due to retinal degeneration
- cardiac conduction defects & neurological defects have been described
Laboratory:
- MT-ATP6 gene mutation
- MT-CO1 gene mutation
- MT-ND1 gene mutation
- MT-ND4 gene mutation
- MT-ND5 gene mutation
- MT-ND6 gene mutation
Pharmacology:
- investigational intravitreal gene therapy lenadogene nolparvovec (Lumevoq)
Related
Leber optic atrophy & dystonia; familial dystonia with visual failure & striatal lucencies
General
optic neuropathy
genetic disease of the eye
Database Correlations
OMIM 535000
References
OMIM :accession 535000