{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T00:35:22Z","timestamp":1792629322989,"version":"4.5.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2003,7,1]],"date-time":"2003-07-01T00:00:00Z","timestamp":1057017600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2003,7,1]],"date-time":"2003-07-01T00:00:00Z","timestamp":1057017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"published-print":{"date-parts":[[2003,7]]},"DOI":"10.1023\/a:1024498826904","type":"journal-article","created":{"date-parts":[[2003,9,15]],"date-time":"2003-09-15T13:22:37Z","timestamp":1063632157000},"page":"3-11","source":"Crossref","is-referenced-by-count":38,"title":["RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy"],"prefix":"10.1007","volume":"107","author":[{"given":"Makoto","family":"Nakamura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Skalet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yozo","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"5122449_CR1","first-page":"739","volume-title":"Hereditary retinal and choroidal diseases","author":"AE Krill","year":"1977","unstructured":"Krill AE. Hereditary retinal and choroidal diseases. Hagerstown: Harper and Row 1977; 2: 739\u2013824."},{"key":"5122449_CR2","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/S0161-6420(90)32577-0","volume":"97","author":"MF Marmor","year":"1990","unstructured":"Marmor MF. Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. Ophthalmology 1990; 97: 380\u20134.","journal-title":"Ophthalmology"},{"key":"5122449_CR3","first-page":"389","volume-title":"Genetic diseases of the eye","author":"J Heckenlively","year":"1998","unstructured":"Heckenlively J. Congenital stationary night blindness. Genetic diseases of the eye. New York: Oxford University Press 1998; 389\u201396."},{"key":"5122449_CR4","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/9707","volume":"22","author":"H Yamamoto","year":"1999","unstructured":"Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet 1999; 22: 188\u201391.","journal-title":"Nat Genet"},{"key":"5122449_CR5","first-page":"3925","volume":"41","author":"M Nakamura","year":"2000","unstructured":"Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci 2000; 41: 3925\u201332.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"5122449_CR6","first-page":"41","volume":"5","author":"F Gonzalez-Fernandez","year":"1999","unstructured":"Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC. 11-cis Retinol dehydrogenase mutations as a major cause of the congenital nightblindness disorder known as fundus albipunctatus. Mol Vision 1999; 5: 41.","journal-title":"Mol Vision"},{"key":"5122449_CR7","first-page":"1894","volume":"41","author":"Y Wada","year":"2000","unstructured":"Wada Y, Abe T, Fuse N, Tamai M. A frequent 1085delC\/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 2000; 41: 1894\u20137.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"5122449_CR8","first-page":"3933","volume":"41","author":"E Hirose","year":"2000","unstructured":"Hirose E, Inoue Y, Morimura H, Okamoto N, Fukuda M, Yamamoto S, Fujikado T, Tano Y. Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 2000; 41: 3933\u20135.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"5122449_CR9","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/S0002-9394(00)00765-0","volume":"130","author":"S Kuroiwa","year":"2000","unstructured":"Kuroiwa S, Kikuchi T, Yoshimura N. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Am J Ophthalmol 2000; 130: 672\u20135.","journal-title":"Am J Ophthalmol"},{"key":"5122449_CR10","first-page":"s615","volume":"41","author":"H Yamamoto","year":"2000","unstructured":"Yamamoto H, Fishman GA, Berson EL, Dryja TP. Three novel mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase in patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 2000; 41: s615.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"5122449_CR11","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/978-1-4615-1355-1_4","volume-title":"New insights into retinal degenerative diseases","author":"M Nakamura","year":"2001","unstructured":"Nakamura M, Hotta Y, Miyake Y. Japanese patients with fundus albipunctatus caused by RDH5 gene mutations. In Anderson RE, LaVail MM, Hollyfield JG, eds. New insights into retinal degenerative diseases. NewYork: Kluwer Academic\/ Plenum. 2001: 29\u201335."},{"key":"5122449_CR12","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1001\/archopht.119.7.1059","volume":"119","author":"Y Wada","year":"2001","unstructured":"Wada Y, Abe T, Sato H, Tamai M. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol 2001; 119: 1059\u201363.","journal-title":"Arch Ophthalmol"},{"key":"5122449_CR13","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1016\/S0161-6420(01)00640-6","volume":"108","author":"CA Driessen","year":"2001","unstructured":"Driessen CA, Janssen BP, Winkens HJ, Kuhlmann LD, Van Vugt AH, Pinckers AJ, Deutman AF, Janssen JJ. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Ophthalmology 2001; 108: 1479\u201384.","journal-title":"Ophthalmology"},{"key":"5122449_CR14","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/S0002-9394(01)01304-6","volume":"133","author":"M Nakamura","year":"2002","unstructured":"Nakamura M, Miyake Y. Macular dystrophy in a 9-year-old boy with fundus albipunctatus. Am J Ophthalmol 2002; 133: 278\u201380.","journal-title":"Am J Ophthalmol"},{"key":"5122449_CR15","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0021-5155(01)00483-X","volume":"46","author":"K Miyazaki","year":"2002","unstructured":"Miyazaki K, Murakami A, Imamura S, Yoshii M, Ishida M, Washio N, Okisaka S. A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child. Jpn J Ophthalmol 2002; 46: 121\u20132.","journal-title":"Jpn J Ophthalmol"},{"key":"5122449_CR16","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1136\/bjo.76.6.375","volume":"76","author":"Y Miyake","year":"1992","unstructured":"Miyake Y, Shiroyama N, Sugita S, Horiguchi M, Yagasaki K. Fundus albipunctatus associated with cone dystrophy. Br J Ophthalmol 1992; 76: 375\u20139.","journal-title":"Br J Ophthalmol"},{"key":"5122449_CR17","first-page":"1000","volume":"40","author":"H Morimura","year":"1999","unstructured":"Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci 1999; 40: 1000\u20134.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"5122449_CR18","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1034\/j.1399-0004.2001.590607.x","volume":"59","author":"N Katsanis","year":"2001","unstructured":"Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet 2001; 59: 424\u20139.","journal-title":"Clin Genet"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1023\/A:1024498826904.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1023\/A:1024498826904\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1023\/A:1024498826904.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T04:17:01Z","timestamp":1753762621000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1023\/A:1024498826904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["5122449"],"URL":"https:\/\/doi.org\/10.1023\/a:1024498826904","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"value":"0012-4486","type":"print"},{"value":"1573-2622","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7]]}}}