Ophthalmic Genetics, Volume 38, Issue 5 (2017)

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Ophthalmic Genetics, Volume 38, Issue 5 (2017)

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Reviews

Review
Ocular manifestations in the X-linked intellectual disability syndromes
Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth & Roger E. Stevenson
Pages: 401-412
Published online: 23 Jan 2017
AbstractforOcular manifestations in the X-linked intellectual disability syndromes | Full Text | References | PDF (1.1 MB)
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Research Reports

Report
Prothrombin polymorphism A19911G, factor V HR2 haplotype A4070G, and plasminogen activator-inhibitor-1 polymorphism 4G/5G and the risk of retinal vein occlusion
Claudia Kuhli-Hattenbach, Peter Hellstern, Dorit Karin Nägler, Thomas Kohnen & Lars-Olof Hattenbach
Pages: 413-417
Published online: 13 Jan 2017
AbstractforProthrombin polymorphism A19911G, factor V HR2 haplotype A4070G, and plasminogen activator-inhibitor-1 polymorphism 4G/5G and the risk of retinal vein occlusion | Full Text | References | PDF (426.1 KB)
  • 209 Views
  • 7 CrossRef citations
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Report
Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt
Ola M. Eid, Sawsan Abdel Hady, Ahmed El-Kotoury, Khalda A. Said, Karima Rafat & Hala T. El-Bassyouni
Pages: 418-421
Published online: 20 Jan 2017
AbstractforRegistry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt | Full Text | References | PDF (569.7 KB)
  • 82 Views
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Report
Association of the DNA repair SMUG1 rs3087404 polymorphism and its interaction with high sensitivity C-reactive protein for age-related macular degeneration in Iranian patients
Mortaza Bonyadi, Faride Mehdizadeh, Mohammad Hossein Jabbarpoor Bonyadi, Masoud Soheilian, Alireza Javadzadeh & Mehdi Yaseri
Pages: 422-427
Published online: 17 Jan 2017
AbstractforAssociation of the DNA repair SMUG1 rs3087404 polymorphism and its interaction with high sensitivity C-reactive protein for age-related macular degeneration in Iranian patients | Full Text | References | PDF (485.5 KB)
  • 134 Views
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Report
Cilioretinal artery: Vasculogenesis might be promoted by plasminogen activator inhibitor-1 5G allele
Sarenur Yilmaz, Aylin Ardagil, Ibrahim Akalin, Meltem Guzin Altinel, Yasar Dag, Esra Kurum, Efe Koyun, Sevil Ari Yaylali & Huseyin Bayramlar
Pages: 428-433
Published online: 01 Feb 2017
AbstractforCilioretinal artery: Vasculogenesis might be promoted by plasminogen activator inhibitor-1 5G allele | Full Text | References | PDF (667.3 KB)
  • 142 Views
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Report
Association of IGF1 polymorphism rs6214 with high myopia: A systematic review and meta-analysis
Dingding Zhang, Guangqun Zeng, Jinliang Hu, Kerry McCormick, Yi Shi & Bo Gong
Pages: 434-439
Published online: 31 Jan 2017
AbstractforAssociation of IGF1 polymorphism rs6214 with high myopia: A systematic review and meta-analysis | Full Text | References | PDF (717.4 KB) | Supplemental
  • 291 Views
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Report
Spectral-domain optical coherence tomography findings in Alström syndrome
Gad Dotan, Vikas Khetan, Jan D. Marshall, Elizabeth Affel, Denise Armiger-George, Jürgen K. Naggert, Gayle B. Collin & Alex V. Levin
Pages: 440-445
Published online: 23 Jan 2017
AbstractforSpectral-domain optical coherence tomography findings in Alström syndrome | Full Text | References | PDF (706.2 KB)
  • 225 Views
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Report
Oxidative DNA damage and reduced expression of DNA repair genes: Role in primary open angle glaucoma (POAG)
Kuldeep Mohanty, Rima Dada & Tanuj Dada
Pages: 446-450
Published online: 27 Jan 2017
AbstractforOxidative DNA damage and reduced expression of DNA repair genes: Role in primary open angle glaucoma (POAG) | Full Text | References | PDF (534.6 KB)
  • 213 Views
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Report
Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration
Montserrat García, Lydia Álvarez, Ángela Fernández, Héctor González-Iglesias, Julio Escribano, Beatriz Fernández-Vega, Eva Villota, Luis Fernández-Vega Cueto, Álvaro Fernández-Vega & Miguel Coca-Prados
Pages: 451-458
Published online: 01 Mar 2017
AbstractforMetallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration | Full Text | References | PDF (740.1 KB) | Supplemental
  • 178 Views
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Report
Multimodal imaging in CABP4-related retinopathy
Patrik Schatz, Maram E. A. Abdalla Elsayed & Arif O. Khan
Pages: 459-464
Published online: 01 Mar 2017
AbstractforMultimodal imaging in CABP4-related retinopathy | Full Text | References | PDF (653.7 KB)
  • 172 Views
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Case Reports

Case Report
Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye
Kamron N. Khan, Keren Carss, F. Lucy Raymond, Farrah Islam, NIHR BioResource-Rare Diseases Consortium, Anthony T. Moore, Michel Michaelides & Gavin Arno
Pages: 465-466
Published online: 28 Nov 2016
AbstractforVitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye | Full Text | References | PDF (290 KB)
  • 439 Views
  • 18 CrossRef citations
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Case Report
Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy
Cynthia X. Qian, Kari Branham, Naheed Khan, Steven K. Lundy, John R. Heckenlively & Thiran Jayasundera
Pages: 467-472
Published online: 31 Jan 2017
AbstractforCystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy | Full Text | References | PDF (826.5 KB)
  • 148 Views
  • 9 CrossRef citations
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Case Report
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier
Paolo Maltese, Lucia Ziccardi, Giancarlo Iarossi, Elena Gusson, Leonardo D’Agruma, Giorgio Marchini, Luca Buzzonetti, Annalisa Nicoletti, Sabrina Benedetti & Matteo Bertelli
Pages: 473-479
Published online: 01 Feb 2017
AbstractforOsteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier | Full Text | References | PDF (837.7 KB)
  • 266 Views
  • 4 CrossRef citations
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Case Report
Leber hereditary optic neuropathy due to a new ND1 mutation
Patrick Soldath, Marianne Wegener, Birgit Sander, Thomas Rosenberg, Morten Duno, Flemming Wibrand & John Vissing
Pages: 480-485
Published online: 31 Jan 2017
AbstractforLeber hereditary optic neuropathy due to a new ND1 mutation | Full Text | References | PDF (596.4 KB)
  • 253 Views
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Case Report
Macular hole in Stargardt disease: Clinical and ultra-structural observation
Stanislao Rizzo, Dario Pasquale Mucciolo, Daniela Bacherini, Vittoria Murro, Lorenzo Vannozzi, Gianni Virgili, Daniele Bani & Andrea Sodi
Pages: 486-489
Published online: 25 Jan 2017
AbstractforMacular hole in Stargardt disease: Clinical and ultra-structural observation | Full Text | References | PDF (628 KB)
  • 150 Views
  • 4 CrossRef citations
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Case Report
Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy
Rita Matos, João Beato, Marta Silva, Sérgio Silva, Elisete Brandão, Fernando Falcão-Reis & Susana Penas
Pages: 490-493
Published online: 25 Jan 2017
AbstractforCombined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy | Full Text | References | PDF (489 KB)
  • 197 Views
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Letters to the Journal

Letter
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa
Imen Habibi, Ahmed Chebil, Fedra Kort, Daniel F. Schorderet & Leila El Matri
Pages: 494-497
Published online: 17 Jan 2017
First Page PreviewforExome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa | Full Text | References | PDF (513.7 KB)
  • 253 Views
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Letter
Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia
Tamer H. A. Ammar, Somaia Ismail, Ossama Abd Al-Motaal Mansour, Mostafa M. El-Shafey, Ahmed S. Doghish, Ahmad M. Kamal & Ghada M. H. Abdel-Salam
Pages: 498-500
Published online: 25 Jan 2017
First Page PreviewforGenetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia | Full Text | References | PDF (547.6 KB) | Supplemental
  • 237 Views
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