Gyrate Atrophy of Choroid and Retina

Alternative Names

  • GACR
  • Hyperornithinemia with Gyrate Atrophy of Choroid and Retina
  • HOGA
  • Gyrate Atrophy
  • Ornithine Aminotransferase Deficiency
  • OAT Deficiency
  • Ornithine Keto Acid Aminotransferase Deficiency
  • OKT Deficiency
  • Ornithine-Delta-Aminotransferase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

258870

Mode of Inheritance

Autosomal Recessive

Gene Map Locus

10q26.13

Description

Gyrate Atrophy of Choroid and Retina is a rare metabolic disorder caused by a deficiency of the Ornithine Aminotransferase enzyme. The disease has a highly variable age of onset ranging from one month to 40 years of age. It is characterised by chorioretinal degeneration, cataract formation and progressive loss of vision. About ten percent of patients also suffer from mild proximal muscle weakness. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
258870.1.1LebanonUnknownYes Hypoornithinemia; ... NM_000274.3:c.3G>AHomozygousAutosomal, RecessiveMitchell et al. 1988
258870.1.2LebanonUnknownYes Hypoornithinemia; ... NM_000274.3:c.3G>AHomozygousAutosomal, RecessiveMitchell et al. 1988 Sibling of 258870.1....
258870.2.1LebanonUnknownYes Hypoornithinemia; ... NM_000274.3:c.3G>AHomozygousAutosomal, RecessiveMitchell et al. 1988
258870.2.2LebanonUnknownYes Hypoornithinemia; ... NM_000274.3:c.3G>AHomozygousAutosomal, RecessiveMitchell et al. 1988 Sibling of 258870.2....
258870.G.1SudanUnknownYesYes Rod-cone dystrophy... NM_000274.4:c.889G>THomozygousAutosomal, RecessivePatel et al, 2018 4 family members
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