Orphanet: Gyrate atrophy of choroid and retina

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Gyrate atrophy of choroid and retina

Disease definition

Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.


Classification level: Disorder
  • Synonym(s):
    • HOGA
    • Hyperornithinemia
    • Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
    • Ornithine aminotransferase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.4
  • OMIM: 258870
  • UMLS: C0018425  C0599035
  • MeSH: C537132
  • GARD: 6556
  • MedDRA: -

Detailed information

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