Ophthalmic Genetics, Volume 39, Issue 2 (2018)

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Ophthalmic Genetics, Volume 39, Issue 2 (2018)

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Reviews

Review
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options
Nashila Hirji, Jonathan Aboshiha, Michalis Georgiou, James Bainbridge & Michel Michaelides
Pages: 149-157
Published online: 05 Jan 2018
AbstractforAchromatopsia: clinical features, molecular genetics, animal models and therapeutic options | Full Text | References | PDF (1.2 MB)
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Review
A new perspective on the genetics of keratoconus: why have we not been more successful?
Hanne Valgaeren, Carina Koppen & Guy Van Camp
Pages: 158-174
Published online: 07 Nov 2017
AbstractforA new perspective on the genetics of keratoconus: why have we not been more successful? | Full Text | References | PDF (1.5 MB) | Supplemental
  • 540 Views
  • 28 CrossRef citations
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Research Reports

Report
Retinal miRNAs variations in a large cohort of inherited retinal disease
Xiu-Feng Huang, Zhi-Qin Huang, Xiao-Long Fang, Zhen-Ji Chen, Wan Cheng & Zi-Bing Jin
Pages: 175-179
Published online: 13 Jul 2017
AbstractforRetinal miRNAs variations in a large cohort of inherited retinal disease | Full Text | References | PDF (827.7 KB) | Supplemental
  • 248 Views
  • 10 CrossRef citations
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Report
Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population
Milena Molasy, Anna Walczak, Karolina Przybyłowska-Sygut, Anna Zaleska-Żmijewska, Jerzy Szaflik, Jacek P. Szaflik & Ireneusz Majsterek
Pages: 180-188
Published online: 02 Nov 2017
AbstractforAnalysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population | Full Text | References | PDF (709.4 KB)
  • 139 Views
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Report
Interactions among different genetic loci in age-related macular degeneration
Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri & Masoud Soheilian
Pages: 189-193
Published online: 31 Oct 2017
AbstractforInteractions among different genetic loci in age-related macular degeneration | Full Text | References | PDF (659.8 KB)
  • 185 Views
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Report
Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil
Hugo Freire Nunes, Galina Ananina, Vital Paulino Costa, Nilson Ivo Tonin Zanchin, José Paulo Cabral de Vasconcellos & Mônica Barbosa de Melo
Pages: 194-199
Published online: 07 Nov 2017
AbstractforInvestigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil | Full Text | References | PDF (508.8 KB)
  • 175 Views
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Report
The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy: A meta-analysis in multiethnic groups
Da Chen, Jihong Wang, Zengrenqing Dan, Xi Shen & Danyangji Ci
Pages: 200-207
Published online: 28 Nov 2017
AbstractforThe relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy: A meta-analysis in multiethnic groups | Full Text | References | PDF (763 KB)
  • 119 Views
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Report
Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy
Yan Chen, Deb Colville, Francesco Ierino, Andrew Symons & Judy Savige
Pages: 208-214
Published online: 27 Nov 2017
AbstractforTemporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy | Full Text | References | PDF (972.2 KB)
  • 231 Views
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Report
Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation
Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Mennat I. Mehrez, Ahmad M. Kamal, Mohamed B. Taher & Hanan H. Afifi
Pages: 215-220
Published online: 15 Nov 2017
AbstractforFurther delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation | Full Text | References | PDF (918.2 KB)
  • 226 Views
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Report
DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma
Kathryn P. Burdon, Mona S. Awadalla, Paul Mitchell, Jie Jin Wang, Andrew White, Miriam C. Keane, Emmanuelle Souzeau, Stuart L. Graham, Ivan Goldberg, Paul R. Healey, John Landers, Richard A. D. Mills, Stephen Best, Alex W. Hewitt, Shiwani Sharma & Jamie E. Craig
Pages: 221-227
Published online: 21 Dec 2017
AbstractforDNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma | Full Text | References | PDF (713.9 KB) | Supplemental
  • 301 Views
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Report
TP53 codon 72 polymorphism and the risk of glaucoma in a north Indian cohort: A genetic association study
Shashank Gupta, Souradip Chatterjee, Abhishek Chandra, Om Prakash Singh Maurya, Ravindra Nath Mishra, Ashim Mukherjee & Mousumi Mutsuddi
Pages: 228-235
Published online: 20 Dec 2017
AbstractforTP53 codon 72 polymorphism and the risk of glaucoma in a north Indian cohort: A genetic association study | Full Text | References | PDF (772.5 KB)
  • 227 Views
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Case Reports

Case Report
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract
Vanita Berry, Nikolas Pontikos, Monica Albarca-Aguilera, Vincent Plagnol, Andreas Massouras, DeQuincy Prescott, Anthony T. Moore, Gavin Arno, Michael E. Cheetham & Michel Michaelides
Pages: 236-241
Published online: 17 Oct 2017
AbstractforA recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract | Full Text | References | PDF (1 MB)
  • 245 Views
  • 13 CrossRef citations
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Case Report
Successful conservative treatment of massive choroidal relapse in 2 retinoblastoma patients monitored by ultrasound biomicroscopy and/or spectral domain optic coherence tomography
Christina Stathopoulos, Marie-Claire Gaillard, Francesco Puccinelli, Philippe Maeder, Doris Hadjistilianou, Maja Beck-Popovic & Francis L. Munier
Pages: 242-246
Published online: 03 Nov 2017
AbstractforSuccessful conservative treatment of massive choroidal relapse in 2 retinoblastoma patients monitored by ultrasound biomicroscopy and/or spectral domain optic coherence tomography | Full Text | References | PDF (835.7 KB)
  • 235 Views
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Case Report
Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report
G. Peene, E. Smets, E. Legius & C. Cassiman
Pages: 247-250
Published online: 21 Nov 2017
AbstractforUnilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report | Full Text | References | PDF (492.7 KB)
  • 197 Views
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Case Report
A rare form of ankyloblepharon filiforme adnatum associated with the Hay–Wells syndrome and a c.1709T>C mutation on the TP63 gene
Hay–Wells syndrome – novel mutation on the TP63 gene
Michal Koubek MD, Kristýna Strakošová MD, Juraj Timkovič MD, PhD, Dagmar Grečmalová MD, Aneta Orlíková, Hana Burčková MD, Hana Wiedermannová MD & Petr Mašek MD, PhD
Pages: 251-254
Published online: 15 Nov 2017
AbstractforA rare form of ankyloblepharon filiforme adnatum associated with the Hay–Wells syndrome and a c.1709T>C mutation on the TP63 gene | Full Text | References | PDF (620.5 KB)
  • 1159 Views
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Open Access
Case Report
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants
Azusa Kominami, Shinji Ueno, Taro Kominami, Ayami Nakanishi, Yasuki Ito, Kaoru Fujinami, Kazushige Tsunoda, Takaaki Hayashi, Sachiko Kikuchi, Shuhei Kameya, Takeshi Iwata & Hiroko Terasaki
Pages: 255-262
Published online: 08 Dec 2017
AbstractforCase of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants | Full Text | References | PDF (1.4 MB)
  • 261 Views
  • 16 CrossRef citations
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Case Report
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
Imran H. Yusuf, Morag E Shanks, Penny Clouston & Robert E. MacLaren
Pages: 263-267
Published online: 01 Dec 2017
AbstractforA splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia | Full Text | References | PDF (743.2 KB)
  • 286 Views
  • 18 CrossRef citations
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Case Report
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features
Elke O. Kreps, Isabelle Van Herzeele & Bert L. Callewaert
Pages: 268-270
Published online: 28 Nov 2017
AbstractforDiagnosis of multiple endocrine neoplasia type 2B and management of its ocular features | Full Text | References | PDF (640.2 KB)
  • 147 Views
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Case Report
Congenital cavitary optic disc anomaly and Axenfeld’s anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature
Mohsin H. Ali, Nathalie F. Azar, Vinay Aakalu, Felix Y. Chau, Javaneh Abbasian, Pete Setabutr & Irene H. Maumenee
Pages: 271-274
Published online: 04 Dec 2017
AbstractforCongenital cavitary optic disc anomaly and Axenfeld’s anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature | Full Text | References | PDF (624 KB)
  • 260 Views
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Case Report
Genotype–phenotype variability of retinal manifestation in primary hyperoxaluria type 1
S. Dulz, E. Bigdon, Y. Atiskova, F. Schuettauf, R. Cerkauskiene, J. Oh & F. Brinkert
Pages: 275-277
Published online: 15 Dec 2017
AbstractforGenotype–phenotype variability of retinal manifestation in primary hyperoxaluria type 1 | Full Text | References | PDF (571.8 KB)
  • 175 Views
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Case Report
Linear nevus sebaceous syndrome presenting as circumscribed choroidal hemangioma
Jose J. Echegaray, Rachel Chen, Claudine Bellerive & Arun D. Singh
Pages: 278-281
Published online: 15 Jan 2018
AbstractforLinear nevus sebaceous syndrome presenting as circumscribed choroidal hemangioma | Full Text | References | PDF (725.4 KB)
  • 156 Views
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Letters to the Journal

Letter
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature
Emily Li & Jennifer A. Galvin
Pages: 282-285
Published online: 08 Nov 2017
First Page PreviewforOphthalmic abnormalities of Pai syndrome: A case report and review of literature | Full Text | References | PDF (405.5 KB)
  • 134 Views
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Letter
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa
Tisiana Low, Anastassios Kostakis & Meena Balasubramanian
Pages: 286-287
Published online: 07 Nov 2017
CitationforCompound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa | Full Text | References | PDF (351.4 KB)
  • 187 Views
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Letter
A novel deep intronic low penetrance RB1 variant in a retinoblastoma family
Sameh E. Soliman, Hilary Racher, Melissa Lambourne, Donco Matevski, Heather MacDonald & Brenda Gallie
Pages: 288-290
Published online: 03 Nov 2017
First Page PreviewforA novel deep intronic low penetrance RB1 variant in a retinoblastoma family | Full Text | References | PDF (533.5 KB)
  • 196 Views
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Letter
Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data
Mariana DuPont, Evan M. Jones, Mingchu Xu & Rui Chen
Pages: 291-292
Published online: 28 Dec 2017
CitationforInvestigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data | Full Text | References | PDF (241 KB)
  • 256 Views
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Letter to the Editor

Letter
Myopia rates in a genetically isolated population
Virgilio Galvis, Alejandro Tello, Luz María Gomez & Johana Otero
Pages: 293-294
Published online: 27 Nov 2017
CitationforMyopia rates in a genetically isolated population | Full Text | References | PDF (429.6 KB)
  • 92 Views
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Reply

Reply
Response to Galvis et al.’s “Myopia rates in a genetically isolated population”
Sarah M. Hilkert, Reut Parness-Yossifon, Rebecca Mets-Halgrimson & Marilyn B. Mets
Page: 295
Published online: 27 Nov 2017
CitationforResponse to Galvis et al.’s “Myopia rates in a genetically isolated population” | Full Text | PDF (167 KB)
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Corrigenda

Correction
Correction to: Valgaeren, Koppen and Van Camp, A New Perspective on the Genetics of Keratoconus: Why Have We Not Been More Successful?
Page: x
Published online: 05 Feb 2018
CitationforCorrection to: Valgaeren, Koppen and Van Camp, A New Perspective on the Genetics of Keratoconus: Why Have We Not Been More Successful? | Full Text | PDF (84.6 KB)
  • 517 Views
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Free Access
Correction
Corrigendum
Page: xi
Published online: 08 Aug 2017
CitationforCorrigendum | Full Text | PDF (89.7 KB)
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Free Access

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