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Volumn 122, Issue 8, 2004, Pages 1203-1207

Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; RETINOL DEHYDROGENASE; VALINE;

EID: 3543102123     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.122.8.1203     Document Type: Article
Times cited : (19)

References (16)
  • 2
    • 0025213515 scopus 로고
    • Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus
    • Marmor MF. Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. Ophthalmology. 1990;97:380-384.
    • (1990) Ophthalmology , vol.97 , pp. 380-384
    • Marmor, M.F.1
  • 3
    • 0007389072 scopus 로고    scopus 로고
    • Congenital stationary night blindness
    • Traboulsi EI, ed. New York, NY: Oxford University Press;
    • Heckenlively J. Congenital stationary night blindness. In: Traboulsi EI, ed. Genetic Diseases of the Eye. New York, NY: Oxford University Press; 1998:389-396.
    • (1998) Genetic Diseases of the Eye , pp. 389-396
    • Heckenlively, J.1
  • 4
    • 0033033364 scopus 로고    scopus 로고
    • Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
    • 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;22:188-191.
    • (1999) Nat Genet , vol.22 , pp. 188-191
    • Yamamoto, H.1    Simon, A.2    Eriksson, U.3    Harris, E.4    Berson, E.L.5    Dryja, T.P.6
  • 5
    • 0033765274 scopus 로고    scopus 로고
    • A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene
    • 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;41:3925-3932.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3925-3932
    • Nakamura, M.1    Hotta, Y.2    Tanikawa, A.3    Terasaki, H.4    Miyake, Y.5
  • 6
    • 33947161097 scopus 로고    scopus 로고
    • 11-cis Retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus
    • Gonzalez-Fernandez F, Kurz D, Bao Y, et al. 11-cis Retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis. 1999;5:41.
    • (1999) Mol Vis , vol.5 , pp. 41
    • Gonzalez-Fernandez, F.1    Kurz, D.2    Bao, Y.3
  • 7
    • 0033625581 scopus 로고    scopus 로고
    • A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus
    • 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;41:1894-1897.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1894-1897
    • Wada, Y.1    Abe, T.2    Fuse, N.3    Tamai, M.4
  • 8
    • 0033759762 scopus 로고    scopus 로고
    • Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus
    • Hirose E, Inoue Y, Morimura H, et al. Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci. 2000;41:3933-3935.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3933-3935
    • Hirose, E.1    Inoue, Y.2    Morimura, H.3
  • 9
    • 0033760984 scopus 로고    scopus 로고
    • A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus
    • 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; 130:672-675.
    • (2000) Am J Ophthalmol , vol.130 , pp. 672-675
    • Kuroiwa, S.1    Kikuchi, T.2    Yoshimura, N.3
  • 10
    • 0041320490 scopus 로고    scopus 로고
    • Japanese patients with fundus albipunctatus caused by RDH5 gene mutations
    • Anderson RE, LaVail MM, Hollyfield JG, eds. New York, NY: Kluwer Academic/Plenum Publishers
    • 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. New York, NY: Kluwer Academic/Plenum Publishers; 2001:29-35.
    • (2001) New Insights into Retinal Degenerative Diseases , pp. 29-35
    • Nakamura, M.1    Hotta, Y.2    Miyake, Y.3
  • 11
    • 0034943560 scopus 로고    scopus 로고
    • A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy
    • 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;119:1059-1063.
    • (2001) Arch Ophthalmol , vol.119 , pp. 1059-1063
    • Wada, Y.1    Abe, T.2    Sato, H.3    Tamai, M.4
  • 12
    • 0034896040 scopus 로고    scopus 로고
    • Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus
    • Driessen CA, Janssen BP, Winkens HJ, et al. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Ophthalmology. 2001;108:1479-1484.
    • (2001) Ophthalmology , vol.108 , pp. 1479-1484
    • Driessen, C.A.1    Janssen, B.P.2    Winkens, H.J.3
  • 13
    • 0035434573 scopus 로고    scopus 로고
    • A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child
    • Miyazaki K, Murakami A, Imamura S, et al. A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child [in Japanese]. Nippon Ganka Gakkai Zasshi. 2001;105:530-534.
    • (2001) Nippon Ganka Gakkai Zasshi , vol.105 , pp. 530-534
    • Miyazaki, K.1    Murakami, A.2    Imamura, S.3
  • 15
    • 0042815065 scopus 로고    scopus 로고
    • RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy
    • Nakamura M, Skalet J, Miyake Y. RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy. Doc Ophthalmol. 2003; 107:3-11.
    • (2003) Doc Ophthalmol , vol.107 , pp. 3-11
    • Nakamura, M.1    Skalet, J.2    Miyake, Y.3
  • 16
    • 0036143140 scopus 로고    scopus 로고
    • Macular dystrophy in a 9-year-old boy with fundus albipunctatus
    • Nakamura M, Miyake Y. Macular dystrophy in a 9-year-old boy with fundus albipunctatus. Am J Ophthalmol. 2002;133:278-280.
    • (2002) Am J Ophthalmol , vol.133 , pp. 278-280
    • Nakamura, M.1    Miyake, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.