Ophthalmic Genetics, Volume 39, Issue 6 (2018)

Browse this journal
Sample our Medicine, Dentistry, Nursing & Allied Health journals, sign in here to start your FREE access for 14 days

Ophthalmic Genetics, Volume 39, Issue 6 (2018)

See all volumes and issues
Vol 45, 2024 Vol 44, 2023 Vol 43, 2022 Vol 42, 2021 Vol 41, 2020 Vol 40, 2019 Volume 39, 2018 Vol 38, 2017 Vol 37, 2016 Vol 36, 2015 Vol 35, 2014 Vol 34, 2013 Vol 33, 2012 Vol 32, 2011 Vol 31, 2010 Vol 30, 2009 Vol 29, 2008 Vol 28, 2007 Vol 27, 2006 Vol 26, 2005 Vol 25, 2004 Vol 24, 2003 Vol 23, 2002 Vol 22, 2001 Vol 21, 2000 Vol 20, 1999 Vol 19, 1998 Vol 18, 1997 Vol 17, 1996 Vol 16, 1995 Vol 15, 1994 Vol 14, 1993 Vol 13, 1992 Vol 12, 1991 Vol 11, 1990 Vol 10, 1989 Vol 9, 1988 Vol 8, 1987 Vol 7, 1986 Vol 6, 1985 Vol 5, 1985 Vol 4, 1984 Vol 3, 1983 Vol 2, 1983 Vol 1, 1981-1982
Download citations Download PDFs Download issue

Current Literature

Gene therapy for RPE65-related retinal disease
Virginia Miraldi Utz, Razek Georges Coussa, Fares Antaki & Elias I. Traboulsi
Pages: 671-677
Published online: 18 Oct 2018
AbstractforGene therapy for RPE65-related retinal disease | Full Text | References | PDF (699.6 KB)
  • 2245 Views
  • 75 CrossRef citations
  • 0Altmetric

Research Reports

Report
Novel causative variants in patients with achromatopsia
Ehab Abdelkader, Oliver Brandau, Carsten Bergmann, Nuha AlSalamah, Sawsan Nowilaty & Patrik Schatz
Pages: 678-683
Published online: 05 Oct 2018
AbstractforNovel causative variants in patients with achromatopsia | Full Text | References | PDF (1.1 MB)
  • 252 Views
  • 5 CrossRef citations
  • 0Altmetric
Report
Association analysis of genetic polymorphisms and expression levels of selected genes involved in extracellular matrix turnover and angiogenesis with the risk of age-related macular degeneration
Katarzyna Oszajca, Maciej Szemraj, Janusz Szemraj & Piotr Jurowski
Pages: 684-698
Published online: 05 Oct 2018
AbstractforAssociation analysis of genetic polymorphisms and expression levels of selected genes involved in extracellular matrix turnover and angiogenesis with the risk of age-related macular degeneration | Full Text | References | PDF (2.6 MB) | Supplemental
  • 235 Views
  • 4 CrossRef citations
  • 0Altmetric
Report
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
Andrea Sodi, Ilaria Passerini, Daniela Bacherini, Luca Boni, Simona Palchetti, Vittoria Murro, Orsola Caporossi, Dario Pasquale Mucciolo, Fabrizio Franco, Lorenzo Vannozzi, Francesca Torricelli, Elisabetta Pelo, Stanislao Rizzo & Gianni Virgili
Pages: 699-705
Published online: 04 Oct 2018
AbstractforCFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease | Full Text | References | PDF (724.2 KB) | Supplemental
  • 206 Views
  • 4 CrossRef citations
  • 0Altmetric
Report
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy
Marianna E. Ivanova, Vladimir N. Trubilin, Dmitry S. Atarshchikov, Andrey M. Demchinsky, Vladimir V. Strelnikov, Alexander S. Tanas, Olga M. Orlova, Anton S. Machalov, Kira V. Overchenko, Tatiana V. Markova, Daria M. Golenkova, Kirill I. Anoshkin, Ilya V. Volodin, Dmitry V. Zaletaev, Andrey A. Pulin, Irina I. Nadelyaeva, Alexey I. Kalinkin & Debmalya Barh
Pages: 706-713
Published online: 25 Oct 2018
AbstractforGenetic screening of Russian Usher syndrome patients toward selection for gene therapy | Full Text | References | PDF (993.2 KB) | Supplemental
  • 422 Views
  • 10 CrossRef citations
  • 0Altmetric
Report
Role of the tissue-type plasminogen activator -7351C > T and plasminogen activator inhibitor 1 4G/5G gene polymorphisms in central serous chorioretinopathy
Eva Maria Malle, Laura Posch-Pertl, Wilfried Renner, Silke Pinter-Hausberger, Christoph Singer, Anton Haas, Andreas Wedrich & Martin Weger
Pages: 714-716
Published online: 15 Nov 2018
AbstractforRole of the tissue-type plasminogen activator -7351C > T and plasminogen activator inhibitor 1 4G/5G gene polymorphisms in central serous chorioretinopathy | Full Text | References | PDF (316.3 KB)
  • 89 Views
  • 5 CrossRef citations
  • 0Altmetric
Report
Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients
Paulo Vinicius Svidnicki, Carolina Ayumi Braghini, Vital Paulino Costa, Rui Barroso Schimiti, José Paulo Cabral de Vasconcellos & Mônica Barbosa de Melo
Pages: 717-724
Published online: 28 Nov 2018
AbstractforOccurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients | Full Text | References | PDF (657.9 KB)
  • 255 Views
  • 13 CrossRef citations
  • 0Altmetric
Report
Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type
Faye Pesenti, Erica Doucet, Charles Morin & Marcele Falcao
Pages: 725-727
Published online: 14 Nov 2018
AbstractforOphthalmic manifestations in patients with Leigh syndrome, French Canadian type | Full Text | References | PDF (325.1 KB)
  • 145 Views
  • 0 CrossRef citations
  • 0Altmetric
Report
Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients
Nancy Hernández-Martínez, Ariadna González-del Angel, Miguel Angel Alcántara-Ortigoza, Luz M. González-Huerta, Sergio A. Cuevas-Covarrubias & Cristina Villanueva-Mendoza
Pages: 728-734
Published online: 20 Nov 2018
AbstractforMolecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients | Full Text | References | PDF (583 KB)
  • 238 Views
  • 2 CrossRef citations
  • 0Altmetric
Report
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation
Jennifer Lee, Hannah L. Scanga, Kunal K. Dansingani, Kenneth J. Taubenslag, Leonid Zlotcavitch, Bharesh K. Chauhan, Christin L. Sylvester, D. Holmes Morton & Ken K. Nischal
Pages: 735-740
Published online: 16 Nov 2018
AbstractforClinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation | Full Text | References | PDF (1.1 MB)
  • 265 Views
  • 6 CrossRef citations
  • 0Altmetric

Case Reports

Case Report
Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy
Francesca Pasutto, Arif Ekici, André Reis, Jan Kremers & Cord Huchzermeyer
Pages: 741-748
Published online: 27 Sep 2018
AbstractforNovel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy | Full Text | References | PDF (1.3 MB)
  • 270 Views
  • 5 CrossRef citations
  • 0Altmetric
Case Report
A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype
Fukutaro Mano, Stephen A. LoBue, Timothy W. Olsen, Alan D. Marmorstein & Jose S. Pulido
Pages: 749-753
Published online: 17 Sep 2018
AbstractforA novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype | Full Text | References | PDF (1.1 MB)
  • 269 Views
  • 3 CrossRef citations
  • 0Altmetric
Case Report
FEVR findings in patients with Loeys-Dietz syndrome type II
Mark A. Solinski, Michael P. Blair, Harry Dietz, David Mittelman & Michael J. Shapiro
Pages: 754-758
Published online: 08 Nov 2018
AbstractforFEVR findings in patients with Loeys-Dietz syndrome type II | Full Text | References | PDF (666.7 KB)
  • 289 Views
  • 6 CrossRef citations
  • 0Altmetric
Case Report
Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina
Ayman G. Elnahry, Fatma K. Hassan & Ahmed A. Abdel-Kader
Pages: 759-762
Published online: 18 Oct 2018
AbstractforBevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina | Full Text | References | PDF (891.9 KB)
  • 632 Views
  • 11 CrossRef citations
  • 0Altmetric
Case Report
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration
Shyamanga Borooah, Chloe M. Stanton, Joseph Marsh, Keren J. Carss, Naushin Waseem, Pooja Biswas, Georgios Agorogiannis, Lucy Raymond, Gavin Arno & Andrew R. Webster
Pages: 763-770
Published online: 19 Nov 2018
AbstractforWhole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration | Full Text | References | PDF (1.3 MB)
  • 398 Views
  • 10 CrossRef citations
  • 0Altmetric

List of Reviewers

List of reviewers for Volume 39
Page: 771
Published online: 28 Nov 2018
CitationforList of reviewers for Volume 39 | Full Text | PDF (88.2 KB)
  • 368 Views
  • 0 CrossRef citations
  • 0Altmetric
Free Access

Explore articles

Explore the most recently published articles

Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A
Kirk A. J. Stephenson et al.
Case Report | Published online: 10 Jun 2024
Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey
Steven Bonneau et al.
Article | Published online: 7 Jun 2024
Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing
Lauren Hucko et al.
Case Report | Published online: 5 Jun 2024
Biallelic occult macular dystrophy
Noor Ghali et al.
Case Report | Published online: 4 Jun 2024
View all latest articles