Ophthalmic Genetics, Volume 36, Issue 1 (2015)

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Ophthalmic Genetics, Volume 36, Issue 1 (2015)

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Research Report

Evaluating the Association between Pathological Myopia and SNPs in RASGRF1. ACTC1 and GJD2 Genes at Chromosome 15q14 and 15q25 in a Chinese Population
Chong-da Chen, Zhi-qiang Yu, Xue-li Chen, Jia-qi Zhou, Xing-tao Zhou, Xing-huai Sun & Ren-yuan Chu
Pages: 1-7
Published online: 08 Jul 2013
AbstractforEvaluating the Association between Pathological Myopia and SNPs in RASGRF1. ACTC1 and GJD2 Genes at Chromosome 15q14 and 15q25 in a Chinese Population | Full Text | References | PDF (95.2 KB) | Supplemental
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Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation
Arif O. Khan, Mohammed A. Aldahmesh, Jawaher Noor, Ahmed Salem & Fowzan S. Alkuraya
Pages: 8-13
Published online: 03 Sep 2013
AbstractforLens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation | Full Text | References | PDF (739.7 KB)
  • 271 Views
  • 14 CrossRef citations
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Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome
Khaled K. Abu-Amero, Altaf A. Kondkar, Abdullah Al Otaibi, Ibrahim A. Alorainy, Arif O. Khan, Ali M. Hellani, Darren T. Oystreck & Thomas M. Bosley
Pages: 14-20
Published online: 19 Aug 2013
AbstractforPartial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome | Full Text | References | PDF (687.2 KB)
  • 311 Views
  • 9 CrossRef citations
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De novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients
Xuan Zou, Fengxia Yao, Xiaofang Liang, Fei Xu, Hui Li, Ruifang Sui & Fangtian Dong
Pages: 21-26
Published online: 03 Sep 2013
AbstractforDe novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients | Full Text | References | PDF (1.1 MB)
  • 257 Views
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The Effect of MTHFR Ala222Val Polymorphism on Open-angle Glaucoma: A Meta-analysis
Rong Zhao, Dongchen Yin, Enpu Wang & Bingxin Si
Pages: 27-30
Published online: 15 Oct 2014
AbstractforThe Effect of MTHFR Ala222Val Polymorphism on Open-angle Glaucoma: A Meta-analysis | Full Text | References | PDF (412.6 KB) | Supplemental
  • 125 Views
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MYOC Mutations in Black South African Patients with Primary Open-angle Glaucoma: Genetic Testing and Cascade Screening
Susan Eileen Isabella Williams, Trevor Robin Carmichael, Tasha Wainstein, Angela Hobbs & Michele Ramsay
Pages: 31-38
Published online: 20 Oct 2014
AbstractforMYOC Mutations in Black South African Patients with Primary Open-angle Glaucoma: Genetic Testing and Cascade Screening | Full Text | References | PDF (229.7 KB)
  • 277 Views
  • 8 CrossRef citations
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Cataract and Glaucoma Development in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
Anders K. Nielsen, Arlene V. Drack & John R. Ostergaard
Pages: 39-42
Published online: 03 Nov 2014
AbstractforCataract and Glaucoma Development in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease) | Full Text | References | PDF (152.6 KB)
  • 204 Views
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Association of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population
Yu Zhou, Ping Shuai, Xiulan Li, Xiaoqi Liu, Jin Wang, Yin Yang, Fang Hao, He Lin, Dingding Zhang & Bo Gong
Pages: 43-49
Published online: 24 Nov 2014
AbstractforAssociation of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population | Full Text | References | PDF (200.1 KB) | Supplemental
  • 213 Views
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Perceptions and Understanding of Genetics and Genetic Eye Disease and Attitudes to Genetic Testing and Gene Therapy in a Primary Eye Care Setting
Pratyusha Ganne, Robert Garrioch & Marcela Votruba
Pages: 50-57
Published online: 28 Nov 2014
AbstractforPerceptions and Understanding of Genetics and Genetic Eye Disease and Attitudes to Genetic Testing and Gene Therapy in a Primary Eye Care Setting | Full Text | References | PDF (289 KB) | Supplemental
  • 508 Views
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Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype
Arif O. Khan, Mohammed A. Aldahmesh, Hadeel Alsharif & Fowzan S. Alkuraya
Pages: 58-63
Published online: 03 Dec 2014
AbstractforRecessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype | Full Text | References | PDF (598.7 KB)
  • 303 Views
  • 24 CrossRef citations
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Mutation Report

Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa
Yezhen Yang, Di Tian, Janet Lee, Jing Zeng, Huiming Zhang, Siying Chen, Hui Guo, Zhiming Xiong, Kun Xia, Zhengmao Hu & Jing Luo
Pages: 64-69
Published online: 08 Jul 2013
AbstractforClinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa | Full Text | References | PDF (392.6 KB)
  • 317 Views
  • 8 CrossRef citations
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Case Report

Case Report
Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation
Xunlun Sheng, Shuang Zhang, Klaus Peter Boergen, Huiping Li & Yani Liu
Pages: 70-74
Published online: 19 Aug 2013
AbstractforOliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation | Full Text | References | PDF (822 KB)
  • 206 Views
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Case Report
Mosaic Chromosome 18q Partial Deletion Syndrome with Bilateral Full-thickness Corneal Disease: Surgical Intervention and Histopathology
Jennifer A. Galvin, Russell M. LeBoyer, Monica Michelotti, Monte A. Del Monte, Victor M. Elner & Shazad I. Mian
Pages: 75-78
Published online: 11 Sep 2013
AbstractforMosaic Chromosome 18q Partial Deletion Syndrome with Bilateral Full-thickness Corneal Disease: Surgical Intervention and Histopathology | Full Text | References | PDF (531.2 KB)
  • 181 Views
  • 3 CrossRef citations
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Case Report
A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations
Arif O. Khan, Carsten Bergmann, Christine Neuhaus & Hanno J. Bolz
Pages: 79-84
Published online: 05 Dec 2014
AbstractforA Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations | Full Text | References | PDF (1.2 MB)
  • 311 Views
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Letter to the Journal

Letter
Macular Cysts in Clinical Cone-rod Dystrophy
Arif O. Khan
Page: 85
Published online: 03 Sep 2013
CitationforMacular Cysts in Clinical Cone-rod Dystrophy | Full Text | References | PDF (48.2 KB)
  • 413 Views
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Free Access
Letter
Iris Flocculi as an Ocular Marker of ACTA2 Mutation in Familial Thoracic Aortic Aneurysms and Dissections
Sarah Chamney, Stuart McGimpsey, Vivienne McConnell & Colin E. Willoughby
Pages: 86-88
Published online: 10 Sep 2013
AbstractforIris Flocculi as an Ocular Marker of ACTA2 Mutation in Familial Thoracic Aortic Aneurysms and Dissections | Full Text | References | PDF (530.8 KB)
  • 2405 Views
  • 10 CrossRef citations
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Free Access
Letter
A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia
Sultan Alzuhairy, Khaled K. Abu-Amero, Sami Al-Shahwan & Deepak P. Edward
Pages: 89-91
Published online: 03 Sep 2013
AbstractforA Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia | Full Text | References | PDF (466.9 KB)
  • 1106 Views
  • 5 CrossRef citations
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Free Access
Letter
A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1
Linda M. Reis, Rebecca C. Tyler, Roberto Zori, Jennifer Burgess, Jennifer Mueller & Elena V. Semina
Pages: 92-94
Published online: 11 Sep 2013
AbstractforA Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1 | Full Text | References | PDF (73.3 KB)
  • 772 Views
  • 3 CrossRef citations
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Free Access
Letter
Independent Origin of c.57 C > T Mutation in MIR184 Associated with Inherited Corneal and Lens Abnormalities
Yelena Bykhovskaya, Michael F. Seldin, Yutao Liu, Michael Ransom, Xiaohui Li & Yaron S. Rabinowitz
Pages: 95-97
Published online: 06 Nov 2014
First Page PreviewforIndependent Origin of c.57 C > T Mutation in MIR184 Associated with Inherited Corneal and Lens Abnormalities | Full Text | References | PDF (97.6 KB) | Supplemental
  • 778 Views
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Free Access

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