optic atrophy 2
A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0043878
hereditary optic atrophy
is_a
OPA2
exact
non-Leber type optic atrophy with early-onset
exact
optic atrophy 2
exact
optic atrophy 2, X-linked
exact
optic atrophy type 2
exact