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Mutation Report

Reversal of cystoid macular edema in gyrate atrophy patients

, , , , , , , & show all
Pages 549-554 | Received 27 Dec 2016, Accepted 26 Feb 2017, Published online: 07 Apr 2017

References

  • Simell O, Takki K. Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet 1973;1(7811):1031–1033.
  • O’Donnell JJ, Sandman RP, Martin SR. Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase. Science 1978;200(4338):200–201.
  • Ramesh V, Benoit LA, Crawford P, et al. The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. Am J Hum Gen 1988;42(2):365–372.
  • Ramesh V, McClatchey AI, Ramesh N, et al. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc National Acad Sci USA 1988;85(11):3777–3780.
  • Takki K. Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J Ophthalmol 1974;58(1):3–23.
  • Vannas-Sulonen K. Progression of gyrate atrophy of the choroid and retina. A long-term follow-up by fluorescein angiography. Acta Ophthalmol (Copenh) 1987;65(1):101–109.
  • Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR. Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology 2012;119(3):596–605.
  • Oliveira TL, Andrade RE, Muccioli C, et al. Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation. Am J Ophthalmol 2005;140(1):147–149.
  • Ganesh A, Stroh E, Manayath GJ, et al. Macular cysts in retinal dystrophy. Curr Opin Ophthalmol 2011;22(5):332–339.
  • Doguizi S, Sekeroglu MA, Anayol MA, Yilmazbas P. Arginine-restricted therapy resistant bilateral macular edema associated with gyrate atrophy. Case Rep Ophthalmol Med 2015;2015:137270.
  • Salvatore S, Fishman GA, Genead MA. Treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol 2013;58(6):560–584.
  • Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol 2006;141(5):850–858.
  • Vasconcelos-Santos DV, Magalhaes EP, Nehemy MB. Macular edema associated with gyrate atrophy managed with intravitreal triamcinolone: a case report. Arquivos brasileiros de oftalmologia 2007;70(5):858–861.
  • 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;122(7):982–984.
  • 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;120(2):146–153.
  • Santinelli R, Costagliola C, Tolone C, et al. 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):187–196.
  • Mashima Y, Weleber RG, Kennaway NG, Inana G. A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy. Hum Genet 1992;90(3):305–307.
  • Michaud J, Thompson GN, Brody LC, et al. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. Am J Hum Genet 1995;56(3):616–622.
  • Mashima YG, Weleber RG, Kennaway NG, Inana G. Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet 1999;20(4):219–224.
  • Ohkubo Y, Ueta A, Ito T, et al. Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D. Tohoku J Exp Med 2005;205(4):335–342.
  • Doimo M, Desbats MA, Baldoin MC, et al. Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Hum Mutat 2013;34(1):229–236.
  • Javadzadeh A, Gharabaghi D. Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. J Med Case Rep 2007;1:27.
  • Tanzer F, Firat M, Alagoz M, Erdogan H. Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6. BMJ Case Rep 2011 Mar 15;2011
  • Renner AB, Walter A, Fiebig BS, Jägle H. Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation. Doc Ophthalmol 2012 Aug;125(1):81–89.
  • Katagiri S, Gekka T, Hayashi T, et al. OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina. Doc Ophthalmol 2014;128(2):137–148.
  • Eran P, Almogit A, David Z, et al. The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation? Ophthalmic Genet 2008;29(2):5359.
  • Kiratli H, Turkcuoglu P, Bilgic S. Gyrate atrophy associated with astrocytic hamartoma of the optic disc. Retina 2004;24(6):976–977.
  • Sebrow DB, Jung JJ, Dagi Glass LR, et al. Long-term follow-up of astrocytic hamartoma of the optic disc associated with gyrate atrophy. Ophthalmic Surg Lasers Imaging Retina 2015;46(3):387–390.
  • Brody LC, Mitchell GA, Obie C, et al. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem 1992;267(5):3302–3307.
  • Mashima Y, Murakami A, Weleber RG, et al. Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. Am J Hum Genet 1992;51(1):81–91.
  • Smolek MK, Notaroberto NF, Jaramillo AG, Pradillo LR. Intervention with vitamins in patients with nonproliferative diabetic retinopathy: a pilot study. Clin Ophthalmol 2013;7:1451–1458.

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