Hyperornithinaemia Associated with Gyrate Atrophy of the Choroid and Retina: Two Cases from India

Valle D Simell O . The hyperornithinemias. In: Scriver CR Beaudet AL Sly WS Valle D , eds. The Metabolic and Molecular Basis of Inherited Disorders, 7th edn. New York: McGraw-Hill Inc, 1995:1147–85.

Oberholzer VG Briddon A . 3-Amino-2-piperidone in the urine of patients with hyperornithinemia. Clin Chim Acta 1978; 87: 411–5.

Shih VE Efron ML Moser HW . Hyperornithinemia, hyperammonemia and homocitrullinuria. Am J Dis Child 1969; 117: 83–92.

Sipila I Simell O Rapola J Sainio K Tuuteri L . Gyrate atrophy of the choroid and retina with hyperornithinemia: Tubular aggregates and type 2 fiber atrophy in muscle. Neurology 1979; 29: 996–1005.

Hayasaka S Saito T Nakajima H Takaku Y Shiono T Mizuno K Gyrate atrophy with hyperornithinemia: Different types of responsiveness to vitamin B6. Br J Ophthalmol 1981; 65: 478–81.

Berson E Shih V Sullivan P . Ocular findings in patients with gyrate atrophy on pyridoxine and low-protein, low-arginine diets. Ophthalmology 1981; 88: 311–5.

Weleber R Kennaway N . Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. Ophthalmology 1981; 88: 316–24.

Valle D Walser M Brusilow S Kaiser-Kupfer M Takki K . Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-deficient diet. Ophthalmology 1981; 88: 325–30.

Kennaway N Weleber R Buist N . Gyrate atrophy of the choroid and retina with hyperornithinemia. Biochemical and histological studies and response to vitamin B6. Am J Hum Genet 1980; 32: 529–41.

Ramesh V McClatchey A Ramesh N Benoit L Berson E Shih V Molecular basis of ornithine aminotransferase deficiency in B6-responsive and non-responsive forms of gyrate atrophy. Proc Natl Acad Sci USA 1988; 85: 3777–80.

Kaiser-Kupfer M Caruso RC Valle D . Gyrate atrophy of choroid and retina. Arch Ophthalmol 1991; 109: 1539–48.

Sipila I Rapola J Simell O Vannas A . Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina. N Engl J Med 1981; 304: 867–70.

Vannas Sulonen K Sipila I Vannas A Simell O Rapola J . Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementation. Ophthalmology 1985; 92: 1719–27.

Hayasaka S Saito T Nakajima H Takahashi O Mizuno K Tada K . Clinical trials of vitamin B6 and proline supplementation for gyrate atrophy of the choroid and retina. Br J Ophthalmol 1985; 69: 283–90.