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Tang, P. Gyrate Atrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/6048 (accessed on 20 September 2026).
Tang P. Gyrate Atrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/6048. Accessed September 20, 2026.
Tang, Peter. "Gyrate Atrophy" Encyclopedia, https://encyclopedia.pub/entry/6048 (accessed September 20, 2026).
Tang, P. (2021, January 04). Gyrate Atrophy. In Encyclopedia. https://encyclopedia.pub/entry/6048
Tang, Peter. "Gyrate Atrophy." Encyclopedia. Web. 04 January, 2021.
Gyrate Atrophy
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Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.

genetic conditions

References

  1. Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation. J Inherit Metab Dis. 2005;28(5):673-9.
  2. Fleury M, Barbier R, Ziegler F, Mohr M, Caron O, Dollfus H, Tranchant C,Warter JM. Myopathy with tubular aggregates and gyrate atrophy of the choroid andretina due to hyperornithinaemia. J Neurol Neurosurg Psychiatry. 2007Jun;78(6):656-7.
  3. Heinänen K, Näntö-Salonen K, Komu M, Erkintalo M, Heinonen OJ, Pulkki K,Valtonen M, Nikoskelainen E, Alanen A, Simell O. Muscle creatine phosphate ingyrate atrophy of the choroid and retina with hyperornithinaemia--clues topathogenesis. Eur J Clin Invest. 1999 May;29(5):426-31.
  4. Kaiser-Kupfer MI, Caruso RC, Valle D, Reed GF. Use of an arginine-restricteddiet to slow progression of visual loss in patients with gyrate atrophy. ArchOphthalmol. 2004 Jul;122(7):982-4.
  5. Kaiser-Kupfer MI, Caruso RC, Valle D. Gyrate atrophy of the choroid andretina: further experience with long-term reduction of ornithine levels inchildren. Arch Ophthalmol. 2002 Feb;120(2):146-53.
  6. Mashima YG, Weleber RG, Kennaway NG, Inana G. Genotype-phenotype correlationof a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet. 1999Dec;20(4):219-24.
  7. Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, DerKaloustian V, Kaiser-Kupfer M, Valle D. An initiator codon mutation inornithine-delta-aminotransferase causing gyrate atrophy of the choroid andretina. J Clin Invest. 1988 Feb;81(2):630-3.
  8. Peltola KE, Jääskeläinen S, Heinonen OJ, Falck B, Näntö-Salonen K, Heinänen K,Simell O. Peripheral nervous system in gyrate atrophy of the choroid and retinawith hyperornithinemia. Neurology. 2002 Sep 10;59(5):735-40.
  9. Peltola KE, Näntö-Salonen K, Heinonen OJ, Jääskeläinen S, Heinänen K, SimellO, Nikoskelainen E. Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.Ophthalmology. 2001 Apr;108(4):721-9.
  10. Santinelli R, Costagliola C, Tolone C, D'Aloia A, D'Avanzo A, Prisco F,Perrone L, del Giudice EM. Low-protein diet and progression of retinaldegeneration in gyrate atrophy of the choroid and retina: a twenty-six-yearfollow-up. J Inherit Metab Dis. 2004;27(2):187-96.
  11. Shenoi A, L N, Christopher R. Hyperornithinemia associated with gyrate atrophyof the choroid and retina in a child with myopia. Indian Pediatr. 2001Aug;38(8):914-8.
  12. Valtonen M, Näntö-Salonen K, Jääskeläinen S, Heinänen K, Alanen A, HeinonenOJ, Lundbom N, Erkintalo M, Simell O. Central nervous system involvement ingyrate atrophy of the choroid and retina with hyperornithinaemia. J Inherit MetabDis. 1999 Dec;22(8):855-66.
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