Autosomal recessive isolated optic atrophy

Orpha code: 98676OMIM code: 616732

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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