Ophthalmic Genetics, Volume 38, Issue 4 (2017)

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Ophthalmic Genetics, Volume 38, Issue 4 (2017)

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Reviews

Review
A decade of age-related macular degeneration risk models: What have we learned from them and where are we going?
Michael Zhang & Paul N. Baird
Pages: 301-307
Published online: 30 Nov 2016
AbstractforA decade of age-related macular degeneration risk models: What have we learned from them and where are we going? | Full Text | References | PDF (748.8 KB)
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Review
Association of combined cigarette smoking and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: A meta-analysis
Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Mortaza Bonyadi, Masoud Soheilian & Homayoun Nikkhah
Pages: 308-313
Published online: 17 Jan 2017
AbstractforAssociation of combined cigarette smoking and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: A meta-analysis | Full Text | References | PDF (682.5 KB) | Supplemental
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Research Reports

Report
Study of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population
Gloria López-Valverde, Elena Garcia-Martin, Javier Fernández-Mateos, Fernando Cruz-González, José M. Larrosa-Povés, Vicente Polo-Llorens, Luis E. Pablo-Júlvez & Rogelio González-Sarmiento
Pages: 314-319
Published online: 26 Sep 2016
AbstractforStudy of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population | Full Text | References | PDF (483.1 KB)
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Report
Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa
George Trichonas, Elias I. Traboulsi & Justis P. Ehlers
Pages: 320-324
Published online: 23 Nov 2016
AbstractforCorrelation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa | Full Text | References | PDF (621.5 KB)
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Report
Association of single-nucleotide polymorphisms in non-coding regions of the TLR4 gene with primary open angle glaucoma in a Mexican population
Jose Navarro-Partida, Beatriz Alvarado Castillo, Abril Bernardette Martinez-Rizo, Ramses Rosales-Diaz, Jesus Bernardino Velazquez-Fernandez & Arturo Santos
Pages: 325-329
Published online: 28 Nov 2016
AbstractforAssociation of single-nucleotide polymorphisms in non-coding regions of the TLR4 gene with primary open angle glaucoma in a Mexican population | Full Text | References | PDF (421.6 KB)
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Report
Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population
Fang Li, Zimeng Ye, Yaru Zhai, Bo Gong, Lingxi Jiang, Haiyan Wu, Ying Lin, Ling Wan, Zhenglin Yang, Yi Shi & Zhengzheng Wu
Pages: 330-334
Published online: 13 Jan 2017
AbstractforEvaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population | Full Text | References | PDF (486.1 KB) | Supplemental
  • 257 Views
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Report
A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome
Asmat Ullah, Muhammad Umair, Farooq Ahmad, Dost Muhammad, Sulman Basit & Wasim Ahmad
Pages: 335-339
Published online: 13 Jan 2017
AbstractforA novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome | Full Text | References | PDF (596.9 KB)
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Report
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations
Ulrich Kellner, Heidi Stöhr, Silke Weinitz, Ghazaleh Farmand & Bernhard H. F. Weber
Pages: 340-344
Published online: 17 Jan 2017
AbstractforMevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations | Full Text | References | PDF (590.3 KB)
  • 302 Views
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Report
A multidisciplinary approach to improving the care and outcomes of patients with retinoblastoma at a pediatric cancer hospital in Egypt
Hossam Elzomor, Hala Taha, Radwa Nour, Adel Aleieldin, M. Saad Zaghloul, Ibrahim Qaddoumi & Ahmad S. Alfaar
Pages: 345-351
Published online: 13 Jan 2017
AbstractforA multidisciplinary approach to improving the care and outcomes of patients with retinoblastoma at a pediatric cancer hospital in Egypt | Full Text | References | PDF (745 KB) | Supplemental
  • 254 Views
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Report
Association of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study
Mehmet Talay Koylu, Murat Kucukevcilioglu, Fazil Cuneyt Erdurman, Ali Hakan Durukan, Gungor Sobacı, Deniz Torun, Yusuf Tunca & Onder Ayyildiz
Pages: 352-356
Published online: 13 Jan 2017
AbstractforAssociation of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study | Full Text | References | PDF (427.5 KB)
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Report
Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration
Neringa Stasiukonyte, Rasa Liutkeviciene, Alvita Vilkeviciute, Mantas Banevicius & Loresa Kriauciuniene
Pages: 357-364
Published online: 17 Jan 2017
AbstractforAssociations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration | Full Text | References | PDF (611.1 KB)
  • 157 Views
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Report
Joint association of complement component 3 and CC-cytokine ligand2 (CCL2) or complement component 3 and CFH polymorphisms in age-related macular degeneration
Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Tahereh Mohammadian, Nikou Fotouhi, Alireza Javadzadeh & Masoud Soheilian
Pages: 365-370
Published online: 17 Jan 2017
AbstractforJoint association of complement component 3 and CC-cytokine ligand2 (CCL2) or complement component 3 and CFH polymorphisms in age-related macular degeneration | Full Text | References | PDF (535.8 KB) | Supplemental
  • 162 Views
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Mutation Report

Report
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia
E. Ullah, D. Wu, L. Madireddy, R. Lao, P. Ling-Fung Tang, E. Wan, T. Bardakjian, S. Kopinsky, P.-Y. Kwok, A. Schneider, S. Baranzini, M. Ansar & A. Slavotinek
Pages: 371-375
Published online: 23 Sep 2016
AbstractforTwo missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia | Full Text | References | PDF (513.6 KB) | Supplemental
  • 303 Views
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Case Reports

Case Report
Ocular and electrophysiological findings in a patient with Sly syndrome
Maree Flaherty, Katie Geering, Stephanie Crofts & John Grigg
Pages: 376-379
Published online: 20 Sep 2016
AbstractforOcular and electrophysiological findings in a patient with Sly syndrome | Full Text | References | PDF (443.9 KB)
  • 199 Views
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Case Report
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy
Arif O. Khan, Steffen Lenzner & Hanno J. Bolz
Pages: 380-382
Published online: 26 Sep 2016
AbstractforA family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy | Full Text | References | PDF (358.4 KB)
  • 187 Views
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Case Report
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion
Egle Preiksaitiene, Birutė Tumienė, Živilė Maldžienė, Erinija Pranckevičienė, Aušra Morkūnienė, Algirdas Utkus & Vaidutis Kučinskas
Pages: 383-386
Published online: 23 Nov 2016
AbstractforFeatures of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion | Full Text | References | PDF (434.5 KB)
  • 267 Views
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Case Report
Elderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries
Kyoko Ishida, Takashi Nishida, Yusuke Niimi, Shinsuke Suemori, Kiyofumi Mochizuki, Hideaki Kawakami, Akio Kimura & Tetsuyuki Hirayama
Pages: 387-391
Published online: 13 Jan 2017
AbstractforElderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries | Full Text | References | PDF (551.5 KB)
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Letter to the Journal

Letter
Psychosocial determinants for treatment decisions in familial retinoblastoma
Sameh E. Soliman, Alissa Ulster, Heather MacDonald, Cynthia VandenHoven, Ants Toi, Elise Hèon & Brenda Gallie
Pages: 392-394
Published online: 13 Jan 2017
First Page PreviewforPsychosocial determinants for treatment decisions in familial retinoblastoma | Full Text | References | PDF (389.4 KB)
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Letter
Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population
Jong-Keuk Lee, Hyuna Kim, Young-Mi Park, Dae Hee Kim & Hyun Taek Lim
Pages: 395-397
Published online: 13 Jan 2017
First Page PreviewforMutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population | Full Text | References | PDF (508.4 KB) | Supplemental
  • 289 Views
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Corrigendum

Correction
Corrigendum
Page: 398
Published online: 17 Jan 2017
CitationforCorrigendum | Full Text | PDF (73.8 KB)
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Free Access

Miscellaneous

Announcement
List of reviewers for 2016
Pages: 399-400
Published online: 20 Sep 2017
CitationforList of reviewers for 2016 | Full Text | PDF (149 KB)
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