autosomal dominant optic atrophy, classic form
One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0020250
autosomal dominant optic atrophy
is_a
Kjer optic atrophy
exact
OAK
related
OPA1
related
autosomal dominant optic atrophy, Kjer type
exact
optic atrophy 1
related
optic atrophy type 1
exact
SPBC1718.06