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Journal Abstract Search


211 related items for PubMed ID: 18949499

  • 1. Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
    Hajali M, Fishman GA, Dryja TP, Sweeney MO, Lindeman M.
    Doc Ophthalmol; 2009 Jun; 118(3):233-8. PubMed ID: 18949499
    [Abstract] [Full Text] [Related]

  • 2. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
    Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP.
    Doc Ophthalmol; 2007 Sep; 115(2):111-6. PubMed ID: 17476461
    [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; 119(7):1059-63. PubMed ID: 11448328
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Fundus albipunctatus and other flecked retina syndromes.
    Flynn MF, Bohnert D.
    J Am Optom Assoc; 1999 Sep; 70(9):571-80. PubMed ID: 10547972
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
    [Abstract] [Full Text] [Related]

  • 9. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
    Dryja TP.
    Am J Ophthalmol; 2000 Nov; 130(5):547-63. PubMed ID: 11078833
    [Abstract] [Full Text] [Related]

  • 10. Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens.
    Genead MA, Fishman GA, Lindeman M.
    Ophthalmic Genet; 2010 Jun; 31(2):66-72. PubMed ID: 20450307
    [Abstract] [Full Text] [Related]

  • 11. [Clinical and genetic findings in a patient with fundus albipunctatus].
    Rüther K, Janssen BP, Kellner U, Janssen JJ, Bohne M, Reimann J, Driessen CA.
    Ophthalmologe; 2004 Feb; 101(2):177-85. PubMed ID: 14991316
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
    Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP.
    Arch Ophthalmol; 2004 Jan; 122(1):70-5. PubMed ID: 14718298
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Variable expressivity in fundus albipunctatus.
    Margolis S, Siegel IM, Ripps H.
    Ophthalmology; 1987 Nov; 94(11):1416-22. PubMed ID: 3500444
    [Abstract] [Full Text] [Related]

  • 16. A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
    Barnes CS, Alexander KR, Fishman GA.
    Ophthalmology; 2002 Mar; 109(3):575-83. PubMed ID: 11874764
    [Abstract] [Full Text] [Related]

  • 17. Rod and cone function in the Nougaret form of stationary night blindness.
    Sandberg MA, Pawlyk BS, Dan J, Arnaud B, Dryja TP, Berson EL.
    Arch Ophthalmol; 1998 Jul; 116(7):867-72. PubMed ID: 9682699
    [Abstract] [Full Text] [Related]

  • 18. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
    Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K.
    Acta Ophthalmol Scand; 2006 Apr; 84(2):254-8. PubMed ID: 16637847
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]


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