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.
References in periodicals archive ?
Primer OPA3 produced the maximum number of polymorphic bands in all the genotypes, followed by OPA7, OPA12 0r OPA20 and OPA16 (Table 8).
Apos selecao, os 'primers' OPA1, OPA2, OPA3, OPA7, OPA8 e OPA9 foram utilizados em reacoes de PCR na avaliacao das plantas regeneradas.