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

Pharmacology

• investigational intravitreal gene therapy lenadogene nolparvovec (Lumevoq)

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

More general terms

• optic neuropathy
• genetic disease of the eye

Additional terms

• Leber optic atrophy & dystonia; familial dystonia with visual failure & striatal lucencies

Database

• OMIM: https://mirror.omim.org/entry/535000