Genetic Conditions > gyrate atrophy of the choroid and retina >

References

These sources were used to develop the Genetics Home Reference condition summary on gyrate atrophy of the choroid and retina.

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. PubMed citation
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 and retina due to hyperornithinaemia. J Neurol Neurosurg Psychiatry. 2007 Jun;78(6):656-7. Epub 2006 Nov 6. PubMed citation
Heinänen K, Näntö-Salonen K, Komu M, Erkintalo M, Heinonen OJ, Pulkki K, Valtonen M, Nikoskelainen E, Alanen A, Simell O. Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia--clues to pathogenesis. Eur J Clin Invest. 1999 May;29(5):426-31. PubMed citation
Kaiser-Kupfer MI, Caruso RC, Valle D, Reed GF. Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy. Arch Ophthalmol. 2004 Jul;122(7):982-4. PubMed citation
Kaiser-Kupfer MI, Caruso RC, Valle D. Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. Arch Ophthalmol. 2002 Feb;120(2):146-53. PubMed citation
Mashima YG, Weleber RG, Kennaway NG, Inana G. Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet. 1999 Dec;20(4):219-24. PubMed citation
Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, Der Kaloustian V, Kaiser-Kupfer M, Valle D. An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest. 1988 Feb;81(2):630-3. PubMed citation
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 retina with hyperornithinemia. Neurology. 2002 Sep 10;59(5):735-40. PubMed citation
Peltola KE, Näntö-Salonen K, Heinonen OJ, Jääskeläinen S, Heinänen K, Simell O, 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. PubMed citation
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 retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. J Inherit Metab Dis. 2004;27(2):187-96. PubMed citation
Shenoi A, L N, Christopher R. Hyperornithinemia associated with gyrate atrophy of the choroid and retina in a child with myopia. Indian Pediatr. 2001 Aug;38(8):914-8. PubMed citation
Valtonen M, Näntö-Salonen K, Jääskeläinen S, Heinänen K, Alanen A, Heinonen OJ, Lundbom N, Erkintalo M, Simell O. Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia. J Inherit Metab Dis. 1999 Dec;22(8):855-66. PubMed citation


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