Ophthalmic Genetics, Volume 34, Issue 4 (2013)

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Ophthalmic Genetics, Volume 34, Issue 4 (2013)

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Review

Review Article
Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion
Virginia M. Utz, Craig D. Beight, Meghan J. Marino, Stephanie A. Hagstrom & Elias I. Traboulsi
Pages: 183-188
Published online: 23 Jan 2013
AbstractforAutosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion | Full Text | References | PDF (957.3 KB)
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Research Reports

Article
Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma
Daniela Ottaviani, Diana Parma, Florencia Giliberto, Marcela Ferrer, Adriana Fandino, Maria Teresa Davila, Guillermo Chantada & Irene Szijan
Pages: 189-198
Published online: 10 Jan 2013
AbstractforSpectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma | Full Text | References | PDF (490.1 KB)
  • 317 Views
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Research Article

Article
Raine Eye Health Study: Design, Methodology and Baseline Prevalence of Ophthalmic Disease in a Birth-cohort Study of Young Adults
Seyhan Yazar, Hannah Forward, Charlotte M. McKnight, Alex Tan, Alla Soloshenko, Sandra K. Oates, Wei Ang, Justin C. Sherwin, Diane Wood, Jenny A. Mountain, Craig E. Pennell, Alex W. Hewitt & David A. Mackey
Pages: 199-208
Published online: 10 Jan 2013
AbstractforRaine Eye Health Study: Design, Methodology and Baseline Prevalence of Ophthalmic Disease in a Birth-cohort Study of Young Adults | Full Text | References | PDF (309.4 KB)
  • 538 Views
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Article
Association of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients
Radwa O. Abbas & Hassan M. E. Azzazy
Pages: 209-216
Published online: 30 Jan 2013
AbstractforAssociation of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients | Full Text | References | PDF (124.2 KB)
  • 178 Views
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Article
The Role of MMP2 (-1306C>T) and TIMP2 (-418 G>C) Promoter Variants in Age-related Macular Degeneration
Huseyin Ortak, Selim Demir, Ömer Ateş, İsmail Benli, Erkan Söğüt & Mehmet Sahin
Pages: 217-222
Published online: 28 Mar 2013
AbstractforThe Role of MMP2 (-1306C>T) and TIMP2 (-418 G>C) Promoter Variants in Age-related Macular Degeneration | Full Text | References | PDF (114.4 KB)
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Article
Analysis of Catalase SNP rs1001179 in Saudi patients with Primary Open Angle Glaucoma
Khaled K. Abu-Amero, Altaf A. Kondkar, Ahmed Mousa, Essam A. Osman & Saleh A. Al-Obeidan
Pages: 223-228
Published online: 22 Apr 2013
AbstractforAnalysis of Catalase SNP rs1001179 in Saudi patients with Primary Open Angle Glaucoma | Full Text | References | PDF (108.6 KB)
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Mutation Reports

Article
Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia
Jonathan Y. Chi, Ian M. MacDonald & Stacey Hume
Pages: 229-233
Published online: 28 Dec 2012
AbstractforCopy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia | Full Text | References | PDF (823.7 KB)
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Research Article

Article
Identification of a Novel LCA6 Mutation in an Emirati Family
Malika Fakhratova
Pages: 234-237
Published online: 02 Jan 2013
AbstractforIdentification of a Novel LCA6 Mutation in an Emirati Family | Full Text | References | PDF (344.8 KB)
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Case Reports

Case Report
Clinical Findings and Molecular Diagnosis of Retinoblastoma in Older Children
Leo H. N. Sheck, Yvonne S. P. Ng, Mike Watson & Andrea L. Vincent
Pages: 238-242
Published online: 04 Jan 2013
AbstractforClinical Findings and Molecular Diagnosis of Retinoblastoma in Older Children | Full Text | References | PDF (1,001.5 KB)
  • 209 Views
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Case Report
Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion
Oscar Chacón-Camacho, Rocio Arce-Gonzalez, Mariella Granillo-Alvarez, Sanjuanita Flores-Limas, Magdalena Ramírez & Juan C. Zenteno
Pages: 243-248
Published online: 01 Feb 2013
AbstractforExpansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion | Full Text | References | PDF (1 MB)
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Case Report
Ophthalmologic Observations in a Patient with Partial Mosaic Trisomy 8
Khaled K. Abu-Amero, Altaf A. Kondkar, Mustafa A. Salih, Muneera Al-Husain, Muneera Al Shammari, Ghassan Zeidan, Darren T. Oystreck, Ali M. Hellani, Amal Y. Kentab & Thomas M. Bosley
Pages: 249-253
Published online: 13 Feb 2013
AbstractforOphthalmologic Observations in a Patient with Partial Mosaic Trisomy 8 | Full Text | References | PDF (845.6 KB)
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Case Report
Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder
Giuseppe de Crecchio, Gilda Cennamo, Nicole de Leeuw, Maria Luisa Ventruto, Maria Concetta Lonardo, Patrizia Friso & Valerio Ventruto
Pages: 254-257
Published online: 30 Jan 2013
AbstractforSevere Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder | Full Text | References | PDF (746.7 KB)
  • 109 Views
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