OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina

Mitchell GA, Looney JE, Brody LC, Steel G, Suchanek M, Engelhardt JF, Willard HF, Valle D (1988) Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. J Biol Chem 263:14288–14295 Ramesh V, Benoit LA, Crawford P, Harvey PT, Shows TB, Shih VE, Gusella JF (1988) The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. Am J Hum Genet 42:365–372 Wu J, Ramesh V, Kidd JR, Castiglione CM, Myers S, Carson N, Anderson L, Gusella JF, Simpson NE, Kidd KK (1988) The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10. Cytogenet Cell Genet 48:126–127 Takki K (1974) Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J Ophthalmol 58:3–23 McCulloch C, Marliss EB (1975) Gyrate atrophy of the choroid and retina with hyperornithinemia. Am J Ophthalmol 80:1047–1057 Deutman AF, Sengers RC, Trybels JM (1978) Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency. Int Ophthalmol 1:49–56 Kaiser-Kupfer MI, Valle D, Del Valle LA (1978) A specific enzyme defect in gyrate atrophy. Am J Ophthalmol 85:200–204 McCulloch JC, Arshinoff SA, Marliss EB, Parker JA (1978) Hyperornithinemia and gyrate atrophy of the choroid and retina. Ophthalmology 85:918–928 Takki KK, Milton RC (1981) The natural history of gyrate atrophy of the choroid and retina. Ophthalmology 88:292–301 Francois J (1982) Metabolic tapetoretinal degenerations. Surv Ophthalmol 26:293–333 Feldman RB, Mayo SS, Robertson DM, Jones JD, Rostvold JA (1989) Epiretinal membranes and cystoid macular edema in gyrate atrophy of the choroid and retina. Retina 9:139–142 Potter MJ, Berson EL (1993) Diagnosis and treatment of gyrate atrophy. Int Ophthalmol Clin 33:229–236 Vannas-Sulonen K (1987) Progression of gyrate atrophy of the choroid and retina. A long-term follow-up by fluorescein angiography. Acta Ophthalmol (Copenh) 65:101–109 Oliveira TL, Andrade RE, Muccioli C, Sallum J, Belfort R Jr (2005) Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation. Am J Ophthalmol 140:147–149 Vasconcelos-Santos DV, Magalhaes EP, Nehemy MB (2007) Macular edema associated with gyrate atrophy managed with intravitreal triamcinolone: a case report. Arq Bras Oftalmol 70:858–861 Renner AB, Walter A, Fiebig BS, Jägle H (2012) 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 125:81–89 Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR (2012) Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology 119:596–605 Simell O, Takki K (1973) Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet 1:1031–1033 Vannas-Sulonen K, Simell O, Sipila I (1987) Gyrate atrophy of the choroid and retina. The ocular disease progresses in juvenile patients despite normal or near normal plasma ornithine concentration. Ophthalmology 94:1428–1433 Kaiser-Kupfer MI, de Monasterio FM, Valle D, Walser M, Brusilow S (1980) Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet. Science 210:1128–1131 Valle D, Walser M, Brusilow SW, Kaiser-Kupfer M (1980) Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet. J Clin Invest 65:371–378 Kaiser-Kupfer MI, de Monasterio F, Valle D, Walser M, Brusilow S (1981) Visual results of a long-term trial of a low-arginine diet in gyrate atrophy of choroid and retina. Ophthalmology 88:307–310 Valle D, Walser M, Brusilow S, Kaiser-Kupfer MI, Takki K (1981) Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted diet. Ophthalmology 88:325–330 Weleber RG, Kennaway NG, Buist NR (1981) Gyrate atrophy of the choroid and retina. Approaches to therapy. Int Ophthalmol 4:23–32 Kaiser-Kupfer MI, Caruso RC, Valle D (1991) Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration. Arch Ophthalmol 109:1539–1548 Kaiser-Kupfer MI, Caruso RC, Valle D (2002) Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. Arch Ophthalmol 120:146–153 Kaiser-Kupfer MI, Caruso RC, Valle D, Reed GF (2004) Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy. Arch Ophthalmol 122:982–984 Santinelli R, Costagliola C, Tolone C, D’Aloia A, D’Avanzo A, Prisco F, Perrone L, del Giudice EM (2004) 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 27:187–196 Hayasaka S, Saito T, Nakajima H, Takaku Y, Shiono T, Mizuno K, Ohmura K, Tada K (1981) Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6. Br J Ophthalmol 65:478–483 Tanzer F, Firat M, Alagoz M, Erdogan H (2011) Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6. BMJ Case Rep. doi:10.1136/bcr.07.2010.3200 Inana G, Hotta Y, Zintz C, Takki K, Weleber RG, Kennaway NG, Nakayasu K, Nakajima A, Shiono T (1988) Expression defect of ornithine aminotransferase gene in gyrate atrophy. Invest Ophthalmol Vis Sci 29:1001–1005 Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, Der Kaloustian V, Kaiser-Kupfer M, Valle D (1988) An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 81:630–633 Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF (1988) Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc Natl Acad Sci USA 85:3777–3780 Nakajima H, Hayasaka S, Shiono T, Watanabe S, Mizuno K, Saito T, Tada K, Watanabe S, Ohba N (1981) A case of gyrate atrophy of tha choroid and retina associated with hyperorithinemia. Jpn J Ophthalmol 25:495–500 Hayasaka S, Shoji K, Kanno C, Oura F, Mizuno K (1985) Differential diagnosis of diffuse choroidal atrophies. Diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina. Retina 5:30–37 Takahashi O, Hayasaka S, Kiyosawa M, Mizuno K, Saito T, Tada K, Igarashi Y (1985) Gyrate atrophy of choroid and retina complicated by vitreous hemorrhage. Jpn J Ophthalmol 29:170–176 Hayasaka S, Shiono T, Mizuno K, Sasayama C, Akiya S, Tanaka Y, Hayakawa M, Miyake Y, Ohba N (1986) Gyrate atrophy of the choroid and retina: 15 Japanese patients. Br J Ophthalmol 70:612–614 Kobayashi T, Ogawa H, Kasahara M, Shiozawa Z, Matsuzawa T (1995) A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. Am J Hum Genet 57:284–291 Mashima Y, Shiono T, Tamai M, Inana G (1996) Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients. Curr Eye Res 15:792–796 Ohkubo Y, Ueta A, Ito T, Sumi S, Yamada M, Ozawa K, Togari H (2005) Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D. Tohoku J Exp Med 205:335–342 Takeuchi T, Hayashi T, Bedell M, Zhang K, Yamada H, Tsuneoka H (2010) A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. Invest Ophthalmol Vis Sci 51:1643–1650 Ohura T, Kominami E, Tada K, Katunuma N (1984) Gyrate atrophy of the choroid and retina: decreased ornithine aminotransferase concentration in cultured skin fibroblasts from patients. Clin Chim Acta 136:29–37 Mashima Y, Murakami A, Weleber RG, Kennaway NG, Clarke L, Shiono T, Inana G (1992) Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. Am J Hum Genet 51:81–91 Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D (1992) Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem 267:3302–3307 Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L (2013) Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Hum Mutat 34:229–236