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

Genetics

• associated with defects in MT-ND4, MT-ND6

Laboratory

• MT-ND4 gene mutation
• MT-ND6 gene mutation

More general terms

• genetic disease of the eye
• genetic syndrome (multisystem disorder)

Additional terms

• Leber hereditary optic neuropathy (Leber optic atrophy, LHON)

Database

• OMIM: https://mirror.omim.org/entry/500001