Autosomal recessive isolated optic atrophy

Orpha code: 98676OMIM code: 616732

Definition

A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.

Disease data
Classification

Disease

Synonyms
Autosomal recessive non-syndromic optic atrophy
Autosomal recessive non-syndromic optic atrophy
ORPHA code
98676
OMIM code
616732
ICD10 code
H47.2
ICD11 code
-

No additional description.

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