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