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Journal Abstract Search

113 related items for PubMed ID: 12972770

  • 1. Albipunctate retinopathy with cone dysfunction and no abnormality in the RDH5 or RLBP1 genes.
    Marmor MF, Haeseleer F, Palczewski K.
    Retina; 2003 Aug; 23(4):543-6. PubMed ID: 12972770
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  • 3. 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; 118(8):1661-70. PubMed ID: 21529959
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  • 7. 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; 41(12):3925-32. PubMed ID: 11053295
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  • 8. 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; 157(3):558-70.e1-4. PubMed ID: 24246574
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  • 9. A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
    Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI.
    Ophthalmology; 2012 Sep; 119(9):1899-906. PubMed ID: 22559933
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  • 10. Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
    Nakamura M, Lin J, Miyake Y.
    Arch Ophthalmol; 2004 Aug; 122(8):1203-7. PubMed ID: 15302662
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  • 12. 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; 125(1):51-62. PubMed ID: 22669287
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  • 15. Macular dystrophy in a 9-year-old boy with fundus albipunctatus.
    Nakamura M, Miyake Y.
    Am J Ophthalmol; 2002 Feb; 133(2):278-80. PubMed ID: 11812441
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  • 16. RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy.
    Ramtohul P, Denis D.
    Ophthalmol Retina; 2019 Jun; 3(6):535. PubMed ID: 31174678
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  • 17. A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
    Yamamoto H, Yakushijin K, Kusuhara S, Escaño MF, Nagai A, Negi A.
    Am J Ophthalmol; 2003 Sep; 136(3):572-4. PubMed ID: 12967826
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  • 18. 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; 107(1):3-11. PubMed ID: 12906118
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  • 19. Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus.
    Song H, Latchney L, Williams D, Chung M.
    JAMA Ophthalmol; 2014 Sep; 132(9):1099-104. PubMed ID: 24922193
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  • 20. Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
    Niwa Y, Kondo M, Ueno S, Nakamura M, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2005 Apr; 46(4):1480-5. PubMed ID: 15790919
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