Orphanet: Autosomal recessive optic atrophy, OPA7 type

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Autosomal recessive optic atrophy, OPA7 type

Disease definition

A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: H47.2
  • OMIM: 612989
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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