Ophthalmic Genetics, Volume 33, Issue 2 (2012)

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Ophthalmic Genetics, Volume 33, Issue 2 (2012)

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Review

Review Article
Choroideremia: A review of general findings and pathogenesis
Razek Georges Coussa & Elias I. Traboulsi
Pages: 57-65
Published online: 21 Oct 2011
AbstractforChoroideremia: A review of general findings and pathogenesis | Full Text | References | PDF (860.6 KB)
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Research Reports

Article
Choroideremia: Effect of age on visual acuity in patients and female carriers
Razek Georges Coussa, James Kim & Elias I. Traboulsi
Pages: 66-73
Published online: 07 Nov 2011
AbstractforChoroideremia: Effect of age on visual acuity in patients and female carriers | Full Text | References | PDF (695.9 KB)
  • 320 Views
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Article
Lack of association between polymorphisms in the prostaglandin F2α receptor and solute carrier organic anion transporter family 2A1 genes and intraocular pressure response to prostaglandin analogs
Catherine A. McCarty, Richard Berg, Richard Patchett, Russell A. Wilke & James K. Burmester
Pages: 74-76
Published online: 07 Nov 2011
AbstractforLack of association between polymorphisms in the prostaglandin F2α receptor and solute carrier organic anion transporter family 2A1 genes and intraocular pressure response to prostaglandin analogs | Full Text | References | PDF (740.9 KB)
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Article
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation
Fei Xu, Ruifang Sui & Fangtian Dong
Pages: 77-82
Published online: 15 Dec 2011
AbstractforThirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation | Full Text | References | PDF (1.2 MB)
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Article
Clinical features of a Japanese case with Bothnia dystrophy
Kazutoshi Nojima, Katsuhiro Hosono, Yang Zhao, Takaaki Toshiba, Akiko Hikoya, Tatsuhiko Asai, Masaru Kato, Mineo Kondo, Shinsei Minoshima & Yoshihiro Hotta
Pages: 83-88
Published online: 15 Dec 2011
AbstractforClinical features of a Japanese case with Bothnia dystrophy | Full Text | References | PDF (852.8 KB)
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Article
Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)
Arif O. Khan, Mohammed A. Aldahmesh, Jawahir Y. Mohamed & Fowzan S. Alkuraya
Pages: 89-95
Published online: 09 Jan 2012
AbstractforPhenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome) | Full Text | References | PDF (1 MB)
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Article
Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa
Cinoo Kim, Hum Chung & Hyeong Gon Yu
Pages: 96-99
Published online: 04 Jan 2012
AbstractforAssociation of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa | Full Text | References | PDF (612.8 KB)
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Case Reports

Case Report
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene
Alina V. Dumitrescu, Jeff M. Milunsky, Susannah Q. Longmuir & Arlene V. Drack
Pages: 100-106
Published online: 22 Dec 2011
AbstractforA family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene | Full Text | References | PDF (854.1 KB) | Supplemental
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Case Report
Microdeletion found by array-CGH in girl with Blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25)
Cristina González-González, Maria García-Hoyos, Rosario Hernaez Calzón, Carolina Arroyo Díaz, Cristina González Fanego, Isabel Lorda Sánchez & Fernando Sánchez-Escribano
Pages: 107-110
Published online: 15 Dec 2011
AbstractforMicrodeletion found by array-CGH in girl with Blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25) | Full Text | References | PDF (635 KB)
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Case Report
Axenfeld-Rieger Spectrum in a Patient with 45,X Turner Syndrome
Ebtesam Mohamed Abdalla & Karim Mahmoud Nabil
Pages: 111-115
Published online: 09 Jan 2012
AbstractforAxenfeld-Rieger Spectrum in a Patient with 45,X Turner Syndrome | Full Text | References | PDF (698.6 KB)
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Case Report
Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders
Natalia Pastora, Jesus Peralta, Irene Canal-Fontcuberta, Anna Grabowska, Jose S. Pulido, Jose Abelairas, Felix Armada & Alfredo Garcia-Alix
Pages: 116-118
Published online: 15 Mar 2012
AbstractforMicrocephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders | Full Text | References | PDF (653.2 KB)
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Letter to the Journal

Letter
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation
Xueshan Xiao, Shiqiang Li & Qingjiong Zhang
Pages: 119-121
Published online: 15 Dec 2011
AbstractforMicrophthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation | Full Text | References | PDF (901.9 KB)
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