Ophthalmic Genetics, Volume 35, Issue 3 (2014)

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Ophthalmic Genetics, Volume 35, Issue 3 (2014)

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Obituary

Obituary
In Memoriam Maria Musarella
Elise Héon, Alex Levin & Ian M. MacDonald
Page: 129
Published online: 21 Apr 2014
CitationforIn Memoriam Maria Musarella | Full Text | PDF (199.8 KB)
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Research Reports

Article
Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation
Arif O. Khan, Mohammed A. Aldahmesh, Leen Abu-Safieh & Fowzan S. Alkuraya
Pages: 130-137
Published online: 14 Jun 2013
AbstractforChildhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation | Full Text | References | PDF (1.6 MB)
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Research Article

Article
Association of Transcription Factor 4 (TCF4) and Protein Tyrosine Phosphatase, Receptor Type G (PTPRG) with Corneal Dystrophies in Southern Chinese
Kai Jie Wang, Vishal Jhanji, Jianhuan Chen, Ricky Wai-Kei Law, Alfred Tai-Shing Leung, Mingzhi Zhang, Ningli Wang, Chi-Pui Pang & Gary Hin-Fai Yam
Pages: 138-141
Published online: 12 Jun 2013
AbstractforAssociation of Transcription Factor 4 (TCF4) and Protein Tyrosine Phosphatase, Receptor Type G (PTPRG) with Corneal Dystrophies in Southern Chinese | Full Text | References | PDF (78.1 KB)
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Article
Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase
Sherry Shen, Tharikarn Sujirakul & Stephen H. Tsang
Pages: 142-150
Published online: 14 May 2014
AbstractforNext-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase | Full Text | References | PDF (861 KB)
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Article
Genetic Variants in the SKIV2L Gene in Exudative Age-related Macular Degeneration in the Japanese Population
Seigo Yoneyama, Yoichi Sakurada, Fumihiko Mabuchi, Atsushi Sugiyama, Takeo Kubota & Hiroyuki Iijima
Pages: 151-155
Published online: 27 May 2014
AbstractforGenetic Variants in the SKIV2L Gene in Exudative Age-related Macular Degeneration in the Japanese Population | Full Text | References | PDF (85.7 KB)
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Article
Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population
Wenjuan Zhuang, HuiPing Li, Yani Liu, Jingjing Zhao, Shaoping Ha, Wei Xiang, Xuewei Bai, Zili Li, Ying Han & Xunlun Sheng
Pages: 156-161
Published online: 27 May 2014
AbstractforAssociation of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population | Full Text | References | PDF (96.3 KB) | Supplemental
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Article
Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome
Khaled K. Abu-Amero, Altaf A. Kondkar, Darren T. Oystreck, Arif O. Khan & Thomas M. Bosley
Pages: 162-169
Published online: 27 May 2014
AbstractforMicrodeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome | Full Text | References | PDF (702.9 KB)
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Case Reports

Case Report
The Role of Fundus Autofluorescence in Late-Onset Retinitis Pigmentosa (LORP) Diagnosis
Tamara J. Lee, John C. Hwang, Royce W. S. Chen, Luiz H. Lima, Nan-Kai Wang, Joaquin Tosi, K. Bailey Freund, Lawrence A. Yannuzzi & Stephen H. Tsang
Pages: 170-179
Published online: 30 Jul 2013
AbstractforThe Role of Fundus Autofluorescence in Late-Onset Retinitis Pigmentosa (LORP) Diagnosis | Full Text | References | PDF (2.9 MB) | Supplemental
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Case Report
Axial Length’s Role in Intraocular Lens Power Calculation Error in X-linked Megalocornea: A Case-series Analysis
Paola De la Parra-Colín, Tonatiuh Barrientos-Gutierrez & Shahzad I. Mian
Pages: 180-183
Published online: 03 Sep 2013
AbstractforAxial Length’s Role in Intraocular Lens Power Calculation Error in X-linked Megalocornea: A Case-series Analysis | Full Text | References | PDF (185.2 KB)
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Case Report
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant
Marco Savarese, Elide Spinelli, Federico Gandolfo, Valentina Lemma, Giuseppina Di Fruscio, Rita Padoan, Francesco Morescalchi, Massimo D’Agostino, Gianfranco Savoldi, Francesco Semeraro, Vincenzo Nigro & Stefano Bonatti
Pages: 184-186
Published online: 08 Jul 2013
AbstractforFamilial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant | Full Text | References | PDF (171.5 KB)
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Letters to the Journal

Letter
Complete Aniridia with Central Keratopathy and Congenital Glaucoma is a CYP1B1-related Phenotype
Arif O. Khan, Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hadia Hijazi & Fowzan S. Alkuraya
Pages: 187-189
Published online: 14 Jun 2013
First Page PreviewforComplete Aniridia with Central Keratopathy and Congenital Glaucoma is a CYP1B1-related Phenotype | Full Text | References | PDF (609.7 KB)
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Letter

Letter
Mutational Screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in Congenital Ocular Malformations. Possible Contribution of the FOXE3 p.VAL201MET Variant to the Risk of Severe Eye Malformations
Ivan A. Garcia-Montalvo, Erika Pelcastre-Luna, Janikua Nelson-Mora, Beatriz Buentello-Volante, Antonio Miranda-Duarte & Juan C. Zenteno
Pages: 190-192
Published online: 01 Apr 2014
First Page PreviewforMutational Screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in Congenital Ocular Malformations. Possible Contribution of the FOXE3 p.VAL201MET Variant to the Risk of Severe Eye Malformations | Full Text | References | PDF (185.2 KB)
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