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Journal Abstract Search

118 related items for PubMed ID: 35250012

  • 1. THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus.
    Newman H, Perlman I, Pras E, Rozenberg A, Ben-Yosef T, Iovino C, Simonelli F, Di Iorio V, Rotenstreich Y, Katzburg E, Ehrenberg M, Iglicki M, Zur D.
    Retina; 2022 Jul 01; 42(7):1364-1369. PubMed ID: 35250012
    [Abstract] [Full Text] [Related]

  • 2. Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
    Makiyama Y, Ooto S, Hangai M, Ogino K, Gotoh N, Oishi A, Yoshimura N.
    Am J Ophthalmol; 2014 Mar 01; 157(3):558-70.e1-4. PubMed ID: 24246574
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Arch Ophthalmol; 2001 Jul 01; 119(7):1059-63. PubMed ID: 11448328
    [Abstract] [Full Text] [Related]

  • 4. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 01; 118(5):888-94. PubMed ID: 21211845
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  • 5. RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
    Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T.
    Invest Ophthalmol Vis Sci; 2020 Mar 09; 61(3):53. PubMed ID: 32232344
    [Abstract] [Full Text] [Related]

  • 6. Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
    Wang NK, Chuang LH, Lai CC, Chou CL, Chu HY, Yeung L, Chen YP, Chen KJ, Wu WC, Chen TL, Chao AN, Hwang YS.
    Doc Ophthalmol; 2012 Aug 09; 125(1):51-62. PubMed ID: 22669287
    [Abstract] [Full Text] [Related]

  • 7. RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
    Liu X, Liu L, Li H, Xu F, Jiang R, Sui R.
    Retina; 2015 Mar 09; 35(3):582-9. PubMed ID: 25170858
    [Abstract] [Full Text] [Related]

  • 8. Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
    Qian T, Gong Q, Shen H, Li C, Wang G, Xu X, Schrauwen I, Wang W.
    BMC Ophthalmol; 2022 Feb 11; 22(1):69. PubMed ID: 35148716
    [Abstract] [Full Text] [Related]

  • 9. RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
    Nakamura M, Skalet J, Miyake Y.
    Doc Ophthalmol; 2003 Jul 11; 107(1):3-11. PubMed ID: 12906118
    [Abstract] [Full Text] [Related]

  • 10. [Fundus albipunctatus with mutations in the RDH5 gene (clinical case)].
    Zolnikova IV, Kadyshev VV, Marakhonov AV, Zinchenko RA, Cherniak AB, Milash SV, Kogoleva LV, Bobrovskaya YA, Kokoeva NS, Egorova IV, Rogova SY.
    Vestn Oftalmol; 2021 Jul 11; 137(1):68-73. PubMed ID: 33610152
    [Abstract] [Full Text] [Related]

  • 11. Macular dystrophy in a 9-year-old boy with fundus albipunctatus.
    Nakamura M, Miyake Y.
    Am J Ophthalmol; 2002 Feb 11; 133(2):278-80. PubMed ID: 11812441
    [Abstract] [Full Text] [Related]

  • 12. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
    Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR.
    Ophthalmology; 2011 Aug 11; 118(8):1661-70. PubMed ID: 21529959
    [Abstract] [Full Text] [Related]

  • 13. 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.
    Invest Ophthalmol Vis Sci; 2000 Nov 11; 41(12):3925-32. PubMed ID: 11053295
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  • 17. A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.
    You H, Sierpina D.
    Case Rep Genet; 2022 Nov 11; 2022():1183772. PubMed ID: 35433063
    [Abstract] [Full Text] [Related]

  • 18. 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, Newman S, Conway BP, Young JE, Han DP, Khani SC.
    Mol Vis; 1999 Dec 30; 5():41. PubMed ID: 10617778
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  • 20. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.
    Wada Y, Abe T, Fuse N, Tamai M.
    Invest Ophthalmol Vis Sci; 2000 Jun 30; 41(7):1894-7. PubMed ID: 10845614
    [Abstract] [Full Text] [Related]

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