Early-onset X-linked optic atrophy

Orpha code: 98890OMIM code: 311050

Definition

Early-onset X-linked optic atrophy is 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.

Disease data
Classification

Disease

Synonyms
Non-Leber type optic atrophy with early-onset
OPA2
Zanik nerwu wzrokowego typu 2
OPA2
Optic atrophy type 2
ORPHA code
98890
OMIM code
311050
ICD10 code
H47.2
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl