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763 related items for PubMed ID: 19376587

  • 1. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.
    Ophthalmology; 2009 Jun; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [Abstract] [Full Text] [Related]

  • 2. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
    Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH.
    Ophthalmology; 2006 Nov; 113(11):2066.e1-10. PubMed ID: 16935340
    [Abstract] [Full Text] [Related]

  • 3. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing.
    Vajaranant TS, Fishman GA, Szlyk JP, Grant-Jordan P, Lindeman M, Seiple W.
    Ophthalmology; 2008 Apr; 115(4):723-9. PubMed ID: 18201765
    [Abstract] [Full Text] [Related]

  • 4. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
    Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4096-104. PubMed ID: 18487380
    [Abstract] [Full Text] [Related]

  • 5. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
    Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U.
    Arch Ophthalmol; 2009 Jul; 127(7):907-12. PubMed ID: 19597113
    [Abstract] [Full Text] [Related]

  • 6. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 7. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Ophthalmology; 2004 Oct; 111(10):1905-9. PubMed ID: 15465555
    [Abstract] [Full Text] [Related]

  • 8. Fundus autofluorescence and fundus perimetry in the junctional zone of geographic atrophy in patients with age-related macular degeneration.
    Schmitz-Valckenberg S, Bültmann S, Dreyhaupt J, Bindewald A, Holz FG, Rohrschneider K.
    Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4470-6. PubMed ID: 15557456
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Fundus autofluorescence and mfERG for early detection of retinal alterations in patients using chloroquine/hydroxychloroquine.
    Kellner U, Renner AB, Tillack H.
    Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3531-8. PubMed ID: 16877425
    [Abstract] [Full Text] [Related]

  • 11. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.
    Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A.
    Arch Ophthalmol; 2007 Aug; 125(8):1107-13. PubMed ID: 17698759
    [Abstract] [Full Text] [Related]

  • 12. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 13. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.
    Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638
    [Abstract] [Full Text] [Related]

  • 14. Autofluorescence and infrared retinal imaging in patients and obligate carriers with neuronal ceroid lipofuscinosis.
    Kelly JP, Weiss AH, Rowell G, Seigel GM.
    Ophthalmic Genet; 2009 Dec; 30(4):190-8. PubMed ID: 19852577
    [Abstract] [Full Text] [Related]

  • 15. High-resolution images of retinal structure in patients with choroideremia.
    Syed R, Sundquist SM, Ratnam K, Zayit-Soudry S, Zhang Y, Crawford JB, MacDonald IM, Godara P, Rha J, Carroll J, Roorda A, Stepien KE, Duncan JL.
    Invest Ophthalmol Vis Sci; 2013 Feb 01; 54(2):950-61. PubMed ID: 23299470
    [Abstract] [Full Text] [Related]

  • 16. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec 01; 112(12):2115. PubMed ID: 16225923
    [Abstract] [Full Text] [Related]

  • 17. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 01; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 18. Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
    Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH, Foerster MH, Kellner U.
    Ophthalmology; 2005 Apr 01; 112(4):586-92. PubMed ID: 15808248
    [Abstract] [Full Text] [Related]

  • 19. Large gene deletion and changes in corneal endothelial cells in a family with choroideremia.
    Lee SY, Yu WK, Lin PK.
    Invest Ophthalmol Vis Sci; 2015 Feb 26; 56(3):1887-93. PubMed ID: 25722215
    [Abstract] [Full Text] [Related]

  • 20. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
    [Abstract] [Full Text] [Related]

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