GTR Home > Conditions/Phenotypes > Ornithine aminotransferase deficiency

Summary

Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002). See 238970 for another hyperornithinemia syndrome. [from OMIM]

Available tests

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Associated genes

Clinical features

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  • EMG abnormality
  • Chorioretinal atrophy
  • Myopia
  • Blindness
  • Night blindness
  • Abnormality of metabolism/homeostasis
  • Proximal muscle weakness
  • Posterior subcapsular cataract
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