optic atrophy type 7

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optic atrophy type 7

An autosomal recessive condition (OMIM:612989) of juvenile onset characterised by severe bilateral loss of visual acuity, optic disk pallor, central scotoma, progressive visual loss and optic atrophy, with a loss in the number of nerve fibres arising in the retina that converge to form the optic disk, optic nerve, optic chiasm and optic tracts.

Molecular pathology
Defects of TMEM126A, which encodes a mitochondrial protein of unknown function, cause optic atrophy type 7.