Orphanet: Autosomal recessive isolated optic atrophy

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Autosomal recessive isolated optic atrophy

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive non-syndromic optic atrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: H47.2
  • OMIM: 258500  616289  616732  617302
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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