Ophthalmic Genetics, Volume 36, Issue 2 (2015)

Browse this journal
Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days

Ophthalmic Genetics, Volume 36, Issue 2 (2015)

See all volumes and issues
Vol 45, 2024 Vol 44, 2023 Vol 43, 2022 Vol 42, 2021 Vol 41, 2020 Vol 40, 2019 Vol 39, 2018 Vol 38, 2017 Vol 37, 2016 Volume 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

Research Report

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome
Khaled K. Abu-Amero, Altaf Kondkar, Ali M. Hellani, Darren T. Oystreck, Arif O. Khan & Thomas M. Bosley
Pages: 99-104
Published online: 03 Sep 2013
AbstractforNicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome | Full Text | References | PDF (476.8 KB)
  • 157 Views
  • 4 CrossRef citations
  • 0Altmetric
Neurodegenerative Genes Polymorphisms of the -491A/T APOE, the -877T/C APP and the Risk of Primary Open-angle Glaucoma in the Polish Population
Alicja Nowak, Karolina Przybylowska-Sygut, Mira Gacek, Anna Kaminska, Jacek P. Szaflik, Jerzy Szaflik & Ireneusz Majsterek
Pages: 105-112
Published online: 27 Sep 2013
AbstractforNeurodegenerative Genes Polymorphisms of the -491A/T APOE, the -877T/C APP and the Risk of Primary Open-angle Glaucoma in the Polish Population | Full Text | References | PDF (113.1 KB)
  • 179 Views
  • 3 CrossRef citations
  • 0Altmetric
Bilateral Concordance of the Fundus Hyperautofluorescent Ring in Typical Retinitis Pigmentosa Patients
Tharikarn Sujirakul, Richard Davis, Deniz Erol, Lijuan Zhang, Giuseppe Schillizzi, Leticia Royo-Dujardin, Sherry Shen & Stephen Tsang
Pages: 113-122
Published online: 10 Oct 2013
AbstractforBilateral Concordance of the Fundus Hyperautofluorescent Ring in Typical Retinitis Pigmentosa Patients | Full Text | References | PDF (743.2 KB)
  • 166 Views
  • 19 CrossRef citations
  • 0Altmetric
Axial Lengths in Children with Recessive Cornea Plana
Amro Al Hazimi & Arif O. Khan
Pages: 123-125
Published online: 04 Dec 2013
AbstractforAxial Lengths in Children with Recessive Cornea Plana | Full Text | References | PDF (71.7 KB)
  • 119 Views
  • 6 CrossRef citations
  • 0Altmetric
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients
Colleen M. Cebulla, Elaine M. Binkley, Robert Pilarski, James B. Massengill, Karan Rai, David A. Liebner, Meghan J. Marino, Arun D. Singh & Mohamed H. Abdel-Rahman
Pages: 126-131
Published online: 17 Feb 2015
AbstractforAnalysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients | Full Text | References | PDF (331.7 KB)
  • 354 Views
  • 30 CrossRef citations
  • 0Altmetric
Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population
Xiao-Dan Hao, Peng Chen, Zhao-Li Chen, Su-Xia Li & Ye Wang
Pages: 132-136
Published online: 12 Feb 2015
AbstractforEvaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population | Full Text | References | PDF (94.3 KB)
  • 291 Views
  • 38 CrossRef citations
  • 0Altmetric
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)
Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Yuri Sergeev, Masakazu Akahori, Masaaki Furuno, Jo Nishino, Kazuho Ikeo, Kazushige Tsunoda, Hiroshi Tsuneoka & Takeshi Iwata
Pages: 137-144
Published online: 21 Jan 2015
AbstractforCongenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K) | Full Text | References | PDF (1.4 MB) | Supplemental
  • 208 Views
  • 9 CrossRef citations
  • 0Altmetric
X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8)
Jonathan Han, Jonathan W. Young, Ricardo F. Frausto, Sherwin J. Isenberg & Anthony J. Aldave
Pages: 145-148
Published online: 27 Sep 2013
AbstractforX-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8) | Full Text | References | PDF (975.8 KB)
  • 407 Views
  • 9 CrossRef citations
  • 0Altmetric
The Role of Matrix Metalloproteinases Polymorphisms in Age-Related Macular Degeneration
Rasa Liutkeviciene, Vaiva Lesauskaite, Giedre Sinkunaite-Marsalkiene, Dalia Zaliuniene, Diana Zaliaduonyte-Peksiene, Vaida Mizariene, Olivija Gustiene, Vytautas Jasinskas, Giedre Jariene & Abdonas Tamosiunas
Pages: 149-155
Published online: 30 Sep 2013
AbstractforThe Role of Matrix Metalloproteinases Polymorphisms in Age-Related Macular Degeneration | Full Text | References | PDF (117.1 KB)
  • 265 Views
  • 20 CrossRef citations
  • 0Altmetric

Case Report

Case Report
Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son
Karthikeyan Arcot Sadagopan, Robert Battista, Rosanne B. Keep, Jenina E. Capasso & Alex V. Levin
Pages: 156-159
Published online: 04 Oct 2013
AbstractforAutosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son | Full Text | References | PDF (548.4 KB)
  • 327 Views
  • 11 CrossRef citations
  • 0Altmetric
Case Report
Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation
Pratyush Ranjan, Deepak Mishra, Thomas Plesec, Vir B. Pratap & Arun D. Singh
Pages: 160-164
Published online: 30 Sep 2013
AbstractforFamilial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation | Full Text | References | PDF (1.3 MB)
  • 96 Views
  • 3 CrossRef citations
  • 0Altmetric
Case Report
Ophthalmological Findings in 6p Deletion Syndrome
Tine Cornelis, Maissa Rayyan, Koenraad Devriendt & Ingele Casteels
Pages: 165-167
Published online: 12 Feb 2015
AbstractforOphthalmological Findings in 6p Deletion Syndrome | Full Text | References | PDF (232.9 KB)
  • 145 Views
  • 1 CrossRef citations
  • 0Altmetric
Case Report
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy
Andrea Sodi, Vittoria Murro, Orsola Caporossi, Ilaria Passerini, Giacomo Maria Bacci, Roberto Caputo & Ugo Menchini
Pages: 168-174
Published online: 12 Feb 2015
AbstractforLong-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy | Full Text | References | PDF (1.9 MB)
  • 308 Views
  • 13 CrossRef citations
  • 0Altmetric
Case Report
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family
Claudia Yahalom, Dror Sharon, Eli Dalia, Shiran Ben Simhon, Efrat Shemesh & Anat Blumenfeld
Pages: 175-179
Published online: 17 Feb 2015
AbstractforCombined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family | Full Text | References | PDF (667.3 KB)
  • 226 Views
  • 7 CrossRef citations
  • 0Altmetric

Letter to the Journal

Letter
Association of SOD2 Mutation (c.47T > C) with Various Primary Angle Closure Glaucoma Clinical Indices
Khaled K. Abu-Amero, Taif Anwar Azad, Ahmed Mousa, Essam A. Osman, Tahira Sultan & Saleh A. Al-Obeidan
Pages: 180-183
Published online: 27 Sep 2013
AbstractforAssociation of SOD2 Mutation (c.47T > C) with Various Primary Angle Closure Glaucoma Clinical Indices | Full Text | References | PDF (78.8 KB)
  • 1064 Views
  • 7 CrossRef citations
  • 0Altmetric
Free Access
Letter
CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia
Khaled K. Abu-Amero, Jose Morales, Leyla A. Aljasim & Deepak P. Edward
Pages: 184-187
Published online: 07 Oct 2013
AbstractforCYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia | Full Text | References | PDF (77.5 KB)
  • 1276 Views
  • 11 CrossRef citations
  • 0Altmetric
Free Access

Letter to the Editor

Letter
Estrogen-related Polymorphisms in Estonian Patients with Age-related Cataract
Dragana Škiljić, Staffan Nilsson, Mona Seibt Palmér, Gunnar Tasa, Erkki Juronen, Anders Behndig, Jan-Olof Karlsson, Anne Petersen, Henrik Zetterberg & Madeleine Zetterberg
Pages: 188-191
Published online: 27 Jan 2015
First Page PreviewforEstrogen-related Polymorphisms in Estonian Patients with Age-related Cataract | Full Text | References | PDF (78 KB)
  • 610 Views
  • 3 CrossRef citations
  • 0Altmetric
Free Access

Explore articles

Explore the most recently published articles

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder
Jessica S. Karuntu et al.
Article | Published online: 25 Apr 2024
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria
Aran Koye et al.
Article | Published online: 17 Apr 2024
Open Access
PRPS1-associated retinopathy: a diagnostic odyssey
Tariq A. Alzahem et al.
Case Report | Published online: 15 Apr 2024
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study
Ayna Sariyeva Ismayilov et al.
Article | Published online: 15 Apr 2024
View all latest articles