{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T03:10:30Z","timestamp":1782789030618,"version":"3.54.5"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1994,5,1]],"date-time":"1994-05-01T00:00:00Z","timestamp":767750400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[1994,5]]},"DOI":"10.1038\/eye.1994.58","type":"journal-article","created":{"date-parts":[[2011,7,4]],"date-time":"2011-07-04T11:10:19Z","timestamp":1309777819000},"page":"284-287","source":"Crossref","is-referenced-by-count":8,"title":["Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria"],"prefix":"10.1038","volume":"8","author":[{"given":"M Y","family":"Khan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A S","family":"Ibraheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Firoozmand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFeye199458_CR1","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1016\/S0140-6736(73)90667-3","volume":"1","author":"O Simell","year":"1973","unstructured":"Simell O, Takki K . Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet 1973; 1: 1031\u20133.","journal-title":"Lancet"},{"key":"BFeye199458_CR2","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1203\/00006450-197610000-00135","volume":"10","author":"RCA Sengers","year":"1976","unstructured":"Sengers RCA . Trijbels JMF, Brussaart JH, Deutman AF . Gyrate atrophy of the choroid and retina and ornithine-ketoacid amino transferase deficiency. Pediatr Res 1976:10: 894.","journal-title":"Pediatr Res"},{"key":"BFeye199458_CR3","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1126\/science.635581","volume":"200","author":"JJ O'Donnell","year":"1978","unstructured":"O'Donnell JJ, Sandman RP, Martin SR . Gyrate atrophy of the retina: inborn error of L-ornithine:2-oxoacid aminotrans-ferase. Science 1978; 200: 200\u2013l.","journal-title":"Science"},{"key":"BFeye199458_CR4","doi-asserted-by":"publisher","first-page":"5159","DOI":"10.1073\/pnas.74.11.5159","volume":"74","author":"D Valle","year":"1977","unstructured":"Valle D, Kaiser-Kupfer MI, Del Valle LA . Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotrans-ferase in transformed lymphocytes. Proc Natl Acad Sci USA 1977; 74: 5159\u201361.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye199458_CR5","first-page":"716A","volume":"40","author":"JJ O'Donnell","year":"1985","unstructured":"O'Donnell JJ, Vannas-Sulonen K, Shows T, Cox D . Ornithine aminotransferase maps to human chromosome 10 and mouse chromosome 7. Cytogenet Cell Genet 1985; 40: 716A.","journal-title":"Cytogenet Cell Genet"},{"key":"BFeye199458_CR6","unstructured":"Valle D, Simell O . The hyperornithinemias: gyrate atrophy of the choroid and retina. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, 1983:382\u2013401."},{"key":"BFeye199458_CR7","first-page":"432","volume":"24","author":"MI Kaiser-Kupfer","year":"1983","unstructured":"Kaiser-Kupfer MI, Kuwabara T, Uga S, Takki K, Valle D . Cataract in gyrate atrophy: clinical and morphologic studies. Invest Ophthalmol Vis Sci 1983; 24: 432\u20136.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye199458_CR8","first-page":"373","volume":"12","author":"K Takki","year":"1976","unstructured":"Takki K, Simell O . Gyrate atrophy of the choroid and retina with hyperornithinemia. Birth Defects 1976; 12: 373\u201384.","journal-title":"Birth Defects"},{"key":"BFeye199458_CR9","doi-asserted-by":"publisher","first-page":"1719","DOI":"10.1016\/S0161-6420(85)34098-8","volume":"92","author":"K Vannas-Sulonen","year":"1985","unstructured":"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\u201327.","journal-title":"Ophthalmology"},{"key":"BFeye199458_CR10","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1016\/S0161-6420(81)35031-3","volume":"88","author":"KK Takki","year":"1981","unstructured":"Takki KK, Milton RC . The natural history of gyrate atrophy of the choroid and retina. Ophthalmology 1981; 88: 292.","journal-title":"Ophthalmology"},{"key":"BFeye199458_CR11","first-page":"202","volume":"26","author":"E Jacobson","year":"1888","unstructured":"Jacobson E . Ein Fall von Retinitis Pigmentosa atypica. Klin Monatsbl Augenheilkd 1888; 26: 202\u20136.","journal-title":"Klin Monatsbl Augenheilkd"},{"key":"BFeye199458_CR12","first-page":"170","volume":"29","author":"O Takkahashi","year":"1985","unstructured":"Takkahashi O, Hayasaka S, Kiyosawa M, Mizuno K, Saito T, Tada K, Igarashi Y . Gyrate atrophy of choroid and retina complicated by vitreous haemorrhage. Jpn J Ophthalmol 1985; 29: 170\u20136.","journal-title":"Jpn J Ophthalmol"},{"key":"BFeye199458_CR13","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/0002-9394(80)90114-2","volume":"89","author":"MI Kaiser-Kupfer","year":"1980","unstructured":"Kaiser-Kupfer MI, Valle D, Bron A . Clinical and biochemical heterogeneity in gyrate atrophy. Am J Ophthalmol 1980; 89: 219.","journal-title":"Am J Ophthalmol"},{"key":"BFeye199458_CR14","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1111\/j.1755-3768.1986.tb06937.x","volume":"64","author":"R Bargum","year":"1986","unstructured":"Bargum R . Differential diagnosis of normoornithine gyrate atrophy of the choroid and retina. Acta Ophthalmol (Copenh) 1986; 64: 369\u201373.","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"BFeye199458_CR15","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1016\/0009-8981(77)90431-4","volume":"79","author":"JMF Trijbels","year":"1977","unstructured":"Trijbels JMF . Sengers RCA. Bakkeren JAJM, Dekort AFM, Deutman AF . L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinemia and gyrate atrophy of the choroid and retina. Clin Chim Acta 1977; 79: 371\u20137.","journal-title":"Clin Chim Acta"},{"key":"BFeye199458_CR16","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/0006-291X(77)90170-X","volume":"79","author":"JJ O'Donnell","year":"1977","unstructured":"O'Donnell JJ, Sandman RP, Martin SR . Deficient L-ornith-ine:2-oxoacid aminotransferase activity in cultured fibro-blasts from a patient with gyrate atrophy of the retina. Biochem Biophys Res Commun 1977; 79: 396\u20139.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFeye199458_CR17","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/0009-8981(84)90244-4","volume":"136","author":"T Ohura","year":"1984","unstructured":"Ohura T, Kominami E, Tada K, Katunuma N . Gyrate atrophy of the choroid and retina: decreased ornithine aminotransferase concentration in cultured skin fibroblasts from patients. Clin Chim Acta 1984; 136: 29\u201337.","journal-title":"Clin Chim Acta"},{"key":"BFeye199458_CR18","first-page":"174","volume":"30","author":"VE Shih","year":"1978","unstructured":"Shih VE, Berson EL, Mandell R, Schmidt SY . Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am J Hum Genet 1978; 30: 174\u20139.","journal-title":"Am J Hum Genet"},{"key":"BFeye199458_CR19","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1016\/S0161-6420(78)35588-3","volume":"85","author":"EL Berson","year":"1978","unstructured":"Berson EL, Schmidt SY, Shih VE . Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina. Ophthalmology 1978; 85: 1018\u201327.","journal-title":"Ophthalmology"},{"key":"BFeye199458_CR20","first-page":"529","volume":"32","author":"NG Kennaway","year":"1980","unstructured":"Kennaway NG, Weleber RG, Buist RM . Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6 . Am J Hum Genet 1980; 32: 529\u201341.","journal-title":"Am J Hum Genet"},{"key":"BFeye199458_CR21","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1136\/bjo.65.7.478","volume":"65","author":"S Hayasaka","year":"1981","unstructured":"Hayasaka S, Saito T, Nakajima Y, Takaku T, Shiono T, Mizuno K, Ohmura K, Tada K . Gyrate atrophy with hyper-ornithinaemia: different types of responsiveness to vitamin B6 . Br J Ophthalmol 1981; 65: 478\u201383.","journal-title":"Br J Ophthalmol"},{"key":"BFeye199458_CR22","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1016\/0926-6569(63)90155-X","volume":"73","author":"C Peraino","year":"1963","unstructured":"Peraino C, Pitot HC . Ornithine-\u03b4-transaminase in the rat: immunoassay and some general properties. Biochim Biophys Acta 1963; 73: 222\u201331.","journal-title":"Biochim Biophys Acta"},{"key":"BFeye199458_CR23","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1172\/JCI113365","volume":"81","author":"GA Mitchell","year":"1988","unstructured":"Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, et al. An initiator codon mutation in ornithine-\u03b4-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 1988; 81: 630\u20133.","journal-title":"J Clin Invest"},{"key":"BFeye199458_CR24","doi-asserted-by":"publisher","first-page":"3777","DOI":"10.1073\/pnas.85.11.3777","volume":"85","author":"V Ramesh","year":"1988","unstructured":"Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF . Molecular basis of ornithine aminotransferase deficiency in B6-responsive and non-responsive form of gyrate atrophy. Proc Natl Acad Sci USA 1988; 85: 3777\u201380.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye199458_CR25","first-page":"1001","volume":"29","author":"G Inana","year":"1988","unstructured":"Inana G, Hotta Y, Zintz C, Takki K, Weleber RG, Kennaway NG, et al. Expression defect of ornithine aminotransferase gene in gyrate atrophy. Invest Ophthalmol Vis Sci 1988; 29: 1001\u20135.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye199458_CR26","first-page":"191","volume":"362","author":"G Inana","year":"1991","unstructured":"Inana G, Hotta Y, Zintz C, Chambers C, Kennaway NG, Weleber RG, et al. Molecular basis of ornithine aminotransferase defect in gyrate atrophy. Prog Clin Biol Res 1991; 362: 191\u2013219.","journal-title":"Prog Clin Biol Res"},{"key":"BFeye199458_CR27","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/S0161-6420(81)35035-0","volume":"88","author":"RG Weleber","year":"1981","unstructured":"Weleber RG, Kennaway NG . Clinical trial of vitamin B6 for gyrate atrophy of choroid and retina. Ophthamology 1981; 88: 316\u201324.","journal-title":"Ophthamology"},{"key":"BFeye199458_CR28","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1038\/eye.1993.57","volume":"7","author":"MRW Ulbig","year":"1993","unstructured":"Ulbig MRW, Hamilton AMP . Factors influencing the natural history of diabetic retinopathy. Eye 1993; 7: 242\u20139.","journal-title":"Eye"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/eye199458.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye199458","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye199458.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:32:28Z","timestamp":1684431148000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye199458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5]]},"references-count":28,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,5]]}},"alternative-id":["BFeye199458"],"URL":"https:\/\/doi.org\/10.1038\/eye.1994.58","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,5]]}}}