Ophthalmic Genetics, Volume 37, Issue 1 (2016)

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Ophthalmic Genetics, Volume 37, Issue 1 (2016)

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Research Reports

Association Analysis of Polymorphisms in Genes Related to Oxidative Stress in South Indian Type 2 Diabetic Patients with Retinopathy
Parimala Narne, Kamakshi Chaithri Ponnaluri, Mohammed Siraj & Mohammed Ishaq
Pages: 1-8
Published online: 12 Mar 2014
AbstractforAssociation Analysis of Polymorphisms in Genes Related to Oxidative Stress in South Indian Type 2 Diabetic Patients with Retinopathy | Full Text | References | PDF (146.3 KB)
  • 213 Views
  • 6 CrossRef citations
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Investigation of the Rho-kinase Gene Polymorphism in Primary Open-angle Glaucoma
Seniz Demiryürek, Seydi Okumus, İbrahim Bozgeyik, Serdar Oztuzcu, Erol Coskun, Emrah Mat, Ela Durucu, Mehmet G. Tatar, İbrahim Erbagci, Bülent Gürler & Abdullah T. Demiryürek
Pages: 9-13
Published online: 11 Mar 2014
AbstractforInvestigation of the Rho-kinase Gene Polymorphism in Primary Open-angle Glaucoma | Full Text | References | PDF (126.3 KB)
  • 189 Views
  • 3 CrossRef citations
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EPHA2 Polymorphisms in Estonian Patients with Age-Related Cataract
Dragana Celojevic, Alexandra Abramsson, Mona Seibt Palmér, Gunnar Tasa, Erkki Juronen, Henrik Zetterberg & Madeleine Zetterberg
Pages: 14-18
Published online: 27 Mar 2014
AbstractforEPHA2 Polymorphisms in Estonian Patients with Age-Related Cataract | Full Text | References | PDF (129.9 KB)
  • 206 Views
  • 3 CrossRef citations
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Polymorphism of GST and FTO Genes in Risk Prediction of Cataract among a North Indian Population
Anu Chandra, Syed Tasleem Raza, Shania Abbas, Luxmi Singh, Saliha Rizvi, Faisal Ahmed, Ale Eba & Farzana Mahdi
Pages: 19-24
Published online: 22 Apr 2014
AbstractforPolymorphism of GST and FTO Genes in Risk Prediction of Cataract among a North Indian Population | Full Text | References | PDF (345.1 KB)
  • 127 Views
  • 2 CrossRef citations
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Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population
Lourdes de Juan-Marcos, Francisco A. Escudero-Domínguez, Emiliano Hernández-Galilea, Lucía Cabrillo-Estévez, Fernando Cruz-González, Clara Cieza-Borrella, Mercedes Sánchez-Barba & Rogelio González-Sarmiento
Pages: 25-30
Published online: 03 Jun 2014
AbstractforAssociation of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population | Full Text | References | PDF (138.4 KB)
  • 157 Views
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Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study
Christiane Al-Haddad, Marwan Abdulaal, Rebecca Badra, Anita Barikian, Bahaa Noureddine & Chantal Farra
Pages: 31-36
Published online: 18 Jun 2014
AbstractforGenotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study | Full Text | References | PDF (134.3 KB)
  • 343 Views
  • 10 CrossRef citations
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Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification
Justyna A. Karolak, Piotr Polakowski, Jerzy Szaflik, Jacek P. Szaflik & Marzena Gajecka
Pages: 37-43
Published online: 18 Jun 2014
AbstractforMolecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification | Full Text | References | PDF (145.7 KB) | Supplemental
  • 468 Views
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Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration
Jacque L. Duncan, Pooja Biswas, Igor Kozak, Mili Navani, Reema Syed, Shiri Soudry, Moreno Menghini, Rafael C. Caruso, Brett G. Jeffrey, John R. Heckenlively, G. Bhanuprakash Reddy, Pauline Lee, Austin Roorda & Radha Ayyagari
Pages: 44-52
Published online: 09 Jul 2014
AbstractforOcular Phenotype of a Family with FAM161A-associated Retinal Degeneration | Full Text | References | PDF (1.8 MB)
  • 646 Views
  • 6 CrossRef citations
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Effects of GH/IGF-I Axis on Retinal Vascular Morphology: Retinal Vascular Characteristics in a Clinical Setting with Severe IGF-I Deficiency
Hande Taylan Sekeroglu, Sibel Kadayıfcılar, Burcu Kasım, Umut Arslan & Alev Ozon
Pages: 53-58
Published online: 31 Jul 2014
AbstractforEffects of GH/IGF-I Axis on Retinal Vascular Morphology: Retinal Vascular Characteristics in a Clinical Setting with Severe IGF-I Deficiency | Full Text | References | PDF (129.9 KB)
  • 143 Views
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Laser-Induced Photic Injury Phenocopies Macular Dystrophy
Lijuan Zhang, Andrew Zheng, Hongping Nie, Kavita V. Bhavsar, Yu Xu, David H. Sliney, Stephen L. Trokel & Stephen H. Tsang
Pages: 59-67
Published online: 29 Feb 2016
AbstractforLaser-Induced Photic Injury Phenocopies Macular Dystrophy | Full Text | References | PDF (3 MB)
  • 395 Views
  • 27 CrossRef citations
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Mutation Report

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia
Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Masakazu Akahori, Kazuho Ikeo, Tamaki Gekka, Hiroshi Tsuneoka & Takeshi Iwata
Pages: 68-75
Published online: 12 Aug 2014
AbstractforNovel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia | Full Text | References | PDF (1.9 MB)
  • 336 Views
  • 7 CrossRef citations
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Case Reports

Case Report
Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity
Tina Bui, Jonathan W. Young, Ricardo F. Frausto, Thomas C. Markello, Ben J. Glasgow & Anthony J. Aldave
Pages: 76-80
Published online: 20 Feb 2014
AbstractforHereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity | Full Text | References | PDF (617.2 KB)
  • 304 Views
  • 1 CrossRef citations
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Case Report
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Connie June Chen & Morton F. Goldberg
Pages: 81-85
Published online: 24 Feb 2014
AbstractforProgressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) | Full Text | References | PDF (1 MB)
  • 294 Views
  • 4 CrossRef citations
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Case Report
Congenital hypothyroidism in Rieger Syndrome
Nurgül Örnek, Reyhan Oğurel & Kemal Örnek
Pages: 86-88
Published online: 25 Mar 2014
AbstractforCongenital hypothyroidism in Rieger Syndrome | Full Text | References | PDF (599.3 KB)
  • 156 Views
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Case Report
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3)
Javier Jardón, Natalio J. Izquierdo, Jessica Y. Renta, Omar García-Rodríguez & Carmen L. Cadilla
Pages: 89-94
Published online: 28 Apr 2014
AbstractforOcular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3) | Full Text | References | PDF (136.3 KB)
  • 197 Views
  • 2 CrossRef citations
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Case Report
Hereditary Diffuse Infiltrating Retinoblastoma
Katharina J. E. Schedler, Peter G. Traine, Dietmar R. Lohmann, Christos Haritoglou, Klaus A. Metz & Eduardo B. Rodrigues
Pages: 95-97
Published online: 03 Jun 2014
AbstractforHereditary Diffuse Infiltrating Retinoblastoma | Full Text | References | PDF (605.4 KB)
  • 188 Views
  • 3 CrossRef citations
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Case Report
Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma
Khaled K. Abu-Amero, Altaf A. Kondkar & Arif O. Khan
Pages: 98-101
Published online: 09 Jun 2014
AbstractforMolecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma | Full Text | References | PDF (568.2 KB)
  • 191 Views
  • 1 CrossRef citations
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Case Report
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1
Connie J. Chen, Stuart Kaufman, Kirk Packo, Heidi Stöhr, Bernhard H. F. Weber & Morton F. Goldberg
Pages: 102-108
Published online: 05 Feb 2016
AbstractforLong-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1 | Full Text | References | PDF (1.9 MB)
  • 297 Views
  • 15 CrossRef citations
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Letters to the Journal

Letter
Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region
Yelena Bykhovskaya, Xiaohui Li, Kent D. Taylor, Talin Haritunians, Jerome I. Rotter & Yaron S. Rabinowitz
Pages: 109-110
Published online: 20 Feb 2014
CitationforLinkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region | Full Text | References | PDF (214.8 KB)
  • 772 Views
  • 9 CrossRef citations
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Free Access
Letter
A Novel Mutation of FOXC1 (R127L) in an Axenfeld–Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases
Rui-Feng Du, Hao Huang, Liang-Liang Fan, Xiang-Ping Li, Kun Xia & Rong Xiang
Pages: 111-115
Published online: 10 Jun 2014
First Page PreviewforA Novel Mutation of FOXC1 (R127L) in an Axenfeld–Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases | Full Text | References | PDF (941 KB)
  • 1726 Views
  • 11 CrossRef citations
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Free Access
Letter
From a Suspicious Cystic Pineal Gland to Pineoblastoma in a Patient with Familial Unilateral Retinoblastoma
Marcus C. de Jong, Annette C. Moll, Sophia Göricke, Paul van der Valk, W. A. Kors, Jonas A. Castelijns & Pim de Graaf
Pages: 116-118
Published online: 18 Jun 2014
First Page PreviewforFrom a Suspicious Cystic Pineal Gland to Pineoblastoma in a Patient with Familial Unilateral Retinoblastoma | Full Text | References | PDF (841.8 KB)
  • 2524 Views
  • 3 CrossRef citations
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Free Access

Letter to the Editor

Letter
Additional Comments on “Ten SNPs of PAX6, Lumican, and MYOC Genes are not Associated with High Myopia in Han Chinese”
Lei Liu
Pages: 119-120
Published online: 19 Feb 2014
CitationforAdditional Comments on “Ten SNPs of PAX6, Lumican, and MYOC Genes are not Associated with High Myopia in Han Chinese” | Full Text | References | PDF (91.3 KB)
  • 623 Views
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Free Access

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