Optic atrophy 2
Optic atrophy 2
Definition
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.
Also known as non-Leber type optic atrophy with early-onset, OPA2, optic atrophy 2, optic atrophy 2, X-linked, optic atrophy type 2 — per MONDO