Ophthalmic Genetics, Volume 33, Issue 4 (2012)

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Ophthalmic Genetics, Volume 33, Issue 4 (2012)

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Review

Review Article
Ocular manifestations of the autoinflammatory syndromes
Ahmad Bakir Tarabishy, Amy G. Hise & Elias I. Traboulsi
Pages: 179-186
Published online: 27 Aug 2012
AbstractforOcular manifestations of the autoinflammatory syndromes | Full Text | References | PDF (791.9 KB)
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Research Reports

Article
Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene
Avery H. Weiss, John P. Kelly, Darren Bisset & Samir S. Deeb
Pages: 187-195
Published online: 02 May 2012
AbstractforReduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene | Full Text | References | PDF (960.2 KB)
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Article
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome
Arif O. Khan
Pages: 196-199
Published online: 11 Jun 2012
AbstractforMicrocornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome | Full Text | References | PDF (813.2 KB)
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Article
Nitric oxide synthase 3 (NOS3) 4b/a, T-786C and G894T polymorphisms in association with diabetic retinopathy susceptibility: A meta-analysis
Shuzhi Zhao, Tao Li, Bingqing Zheng & Zhi Zheng
Pages: 200-207
Published online: 17 Apr 2012
AbstractforNitric oxide synthase 3 (NOS3) 4b/a, T-786C and G894T polymorphisms in association with diabetic retinopathy susceptibility: A meta-analysis | Full Text | References | PDF (715.2 KB) | Supplemental
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Article
Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity
Azam Khorshidi, Laurie Russell, Steven Bamforth, Garry Drummond, Royce Johnson & Ordan J. Lehmann
Pages: 208-220
Published online: 24 Jan 2012
AbstractforHomozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity | Full Text | References | PDF (1,000.4 KB)
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Article
Analysis of single nucleotide polymorphisms in the SFRS3 and FKBP4 genes in corticosteroid-induced ocular hypertension
Barend F. Hogewind, Shazia Micheal, Bjorn Bakker, Carel B. Hoyng & Anneke I. den Hollander
Pages: 221-224
Published online: 27 Aug 2012
AbstractforAnalysis of single nucleotide polymorphisms in the SFRS3 and FKBP4 genes in corticosteroid-induced ocular hypertension | Full Text | References | PDF (591.5 KB)
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Mutation Report

Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy
Morten Duno, Marianne Schwartz, Pernille L. Larsen & Thomas Rosenberg
Pages: 225-231
Published online: 09 Jan 2012
AbstractforPhenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy | Full Text | References | PDF (634.7 KB)
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Case Reports

Case Report
Ocular anomalies in an infant with Klinefelter Syndrome
Alexander T. Juhn, Naeem U. Nabi & Alex V. Levin
Pages: 232-234
Published online: 09 Apr 2012
AbstractforOcular anomalies in an infant with Klinefelter Syndrome | Full Text | References | PDF (540.7 KB)
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Case Report
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation
Arif O. Khan, Mohammed A. Aldahmesh, Huda Al-Ghadeer, Jawaher Y. Mohamed & Fowzan S. Alkuraya
Pages: 235-239
Published online: 09 Apr 2012
AbstractforFamilial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation | Full Text | References | PDF (795 KB)
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Case Report
Chromosome 6p25 Deletion Syndrome: Report of a case with optic disc coloboma and review of published ophthalmic findings
Francis Beby, Vincent Des Portes, Marianne Till, Carmine Mottolese & Philippe Denis
Pages: 240-248
Published online: 12 Apr 2012
AbstractforChromosome 6p25 Deletion Syndrome: Report of a case with optic disc coloboma and review of published ophthalmic findings | Full Text | References | PDF (658.4 KB)
  • 396 Views
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Case Report
Neuro-ophthalmologic findings in humans with quadrupedal locomotion
Ozge Sarac, Suleyman Gulsuner, Yelda Yildiz-Tasci, Tayfun Ozcelik & Tulay Kansu
Pages: 249-252
Published online: 11 Jun 2012
AbstractforNeuro-ophthalmologic findings in humans with quadrupedal locomotion | Full Text | References | PDF (623 KB)
  • 255 Views
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Case Report
Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography
Leo H. N. Sheck, Callum J. Wilson & Andrea L. Vincent
Pages: 253-256
Published online: 06 Sep 2012
AbstractforAnalysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography | Full Text | References | PDF (837.4 KB)
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Letter to the Journal

Letter
Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation
Arif O. Khan, Mohammed A. Aldahmesh & Fowzan S. Alkuraya
Pages: 257-259
Published online: 09 Apr 2012
First Page PreviewforBrittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation | Full Text | References | PDF (674.7 KB)
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