Ophthalmic Genetics, Volume 39, Issue 1 (2018)

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Ophthalmic Genetics, Volume 39, Issue 1 (2018)

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Perspective

Article Commentary
Challenges of managing retinal dystrophies: An experience from south India
Rajani Battu, Ashwin Mallipatna, Niby Jacob Elackatt, Jan S. A. G. Schouten & Carroll A. B. Webers
Pages: 1-3
Published online: 13 Jul 2017
First Page PreviewforChallenges of managing retinal dystrophies: An experience from south India | Full Text | References | PDF (294.1 KB)
  • 86 Views
  • 1 CrossRef citations
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Research Reports

Report
CD36 gene is associated with intraocular pressure elevation after intravitreal application of anti-VEGF agents in patients with age-related macular degeneration: Implications for the safety of the therapy
Veronika Matušková, Vladimir J. Balcar, Naim A. Khan, Ondřej Bonczek, Laura Ewerlingová, Tomáš Zeman, Petr Kolář, Daniela Vysloužilová, Eva Vlková & Omar Šerý
Pages: 4-10
Published online: 30 May 2017
AbstractforCD36 gene is associated with intraocular pressure elevation after intravitreal application of anti-VEGF agents in patients with age-related macular degeneration: Implications for the safety of the therapy | Full Text | References | PDF (706 KB)
  • 254 Views
  • 10 CrossRef citations
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Report
Ocular biometry and determinants of refractive error in a founder population of European ancestry
Sarah M. Hilkert, Reut Parness-Yossifon, Rebecca Mets-Halgrimson & Marilyn B. Mets
Pages: 11-16
Published online: 01 Jun 2017
AbstractforOcular biometry and determinants of refractive error in a founder population of European ancestry | Full Text | References | PDF (594.6 KB)
  • 185 Views
  • 2 CrossRef citations
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Report
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome
Francesco Testa, Paolo Melillo, Settimio Rossi, Vincenzo Marcelli, Antonella de Benedictis, Raffaella Colucci, Beatrice Gallo, Raffaella Brunetti-Pierri, Simone Donati, Claudio Azzolini, Elio Marciano & Francesca Simonelli
Pages: 17-21
Published online: 13 Jul 2017
AbstractforPrevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome | Full Text | References | PDF (518.6 KB)
  • 264 Views
  • 9 CrossRef citations
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Report
Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials
Vaidehi S. Dedania, Jerry Y. Liu, Dana Schlegel, Chris A. Andrews, Kari Branham, Naheed W. Khan, David C. Musch, John R. Heckenlively & K. Thiran Jayasundera
Pages: 22-28
Published online: 13 Jul 2017
AbstractforReliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials | Full Text | References | PDF (742.8 KB)
  • 194 Views
  • 6 CrossRef citations
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Report
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series
Joshua S. Hardin, Yuri A. Zarate, Bert Callewaert, Paul H. Phillips & David B. Warner
Pages: 29-34
Published online: 20 Jul 2017
AbstractforOphthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series | Full Text | References | PDF (652.2 KB)
  • 282 Views
  • 9 CrossRef citations
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Report
Association of catalase polymorphisms with primary open-angle glaucoma in a Chinese population
Bo Gong, Yi Shi, Chao Qu, Zimeng Ye, Yilin Yin, Chang Tan, Ping Shuai, Jing Li, Xiaoxin Guo, Yilian Cheng, Zhenglin Yang, Ying Lin & Xiaoqi Liu
Pages: 35-40
Published online: 22 Aug 2017
AbstractforAssociation of catalase polymorphisms with primary open-angle glaucoma in a Chinese population | Full Text | References | PDF (609.2 KB) | Supplemental
  • 132 Views
  • 7 CrossRef citations
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Report
A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching
Chen Wang, Flavia Brancusi, Zaheer M. Valivullah, Michael G. Anderson, Denise Cunningham, Adam Hedberg-Buenz, Bradley Power, Dimitre Simeonov, William A. Gahl, Wadih M. Zein, David R. Adams & Brian Brooks
Pages: 41-45
Published online: 25 Jul 2017
AbstractforA novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching | Full Text | References | PDF (656.9 KB) | Supplemental
  • 328 Views
  • 3 CrossRef citations
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Report
Association of HTRA1 rs11200638 with age-related macular degeneration (AMD) in Brazilian patients
Tamires Prates Lana, Sueli Matilde da Silva Costa, Galina Ananina, Fábio Endo Hirata, Priscila Hae Hyun Rim, Flávio MacCord Medina, José Paulo Cabral de Vasconcellos & Mônica Barbosa de Melo
Pages: 46-50
Published online: 28 Aug 2017
AbstractforAssociation of HTRA1 rs11200638 with age-related macular degeneration (AMD) in Brazilian patients | Full Text | References | PDF (487.1 KB)
  • 212 Views
  • 8 CrossRef citations
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Report
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature
A. P. Bessette, M. J. DeBenedictis & E. I. Traboulsi
Pages: 51-55
Published online: 08 Sep 2017
AbstractforClinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature | Full Text | References | PDF (574.8 KB) | Supplemental
  • 483 Views
  • 16 CrossRef citations
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Report
Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes & Verónica Fabiola Morán-Barroso
Pages: 56-62
Published online: 18 Sep 2017
AbstractforNance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature | Full Text | References | PDF (694.9 KB)
  • 397 Views
  • 3 CrossRef citations
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Report
Phenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients
Viney Gupta, Ashish Markan, Bindu I. Somarajan, Ramanjit Sihota, Amisha Gupta, Shikha Gupta & Arundhati Sharma
Pages: 63-67
Published online: 14 Sep 2017
AbstractforPhenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients | Full Text | References | PDF (433.8 KB)
  • 99 Views
  • 3 CrossRef citations
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Report
Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism
Kathleen R. Chirco, Carly J. Lewis, Todd E. Scheetz, Rebecca M. Johnston, Budd A. Tucker, Edwin M. Stone, John H. Fingert & Robert F. Mullins
Pages: 68-72
Published online: 26 Sep 2017
AbstractforEvaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism | Full Text | References | PDF (502.8 KB)
  • 144 Views
  • 2 CrossRef citations
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Report
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent
Adda Villanueva, Pooja Biswas, Kameron Kishaba, John Suk, Keerti Tadimeti, Pongali B Raghavendra, Karine Nadeau, Bruno Lamontagne, Lambert Busque, Steve Geoffroy, Ian Mongrain, Géraldine Asselin, Sylvie Provost, Marie-Pierre Dubé, Eric Nudleman & Radha Ayyagari
Pages: 73-79
Published online: 25 Sep 2017
AbstractforIdentification of the genetic determinants responsible for retinal degeneration in families of Mexican descent | Full Text | References | PDF (823 KB) | Supplemental
  • 299 Views
  • 7 CrossRef citations
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Report
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions
Pascal Escher, Olga Passarin, Francis L. Munier, Viet H. Tran & Veronika Vaclavik
Pages: 80-86
Published online: 31 Oct 2017
AbstractforVariability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions | Full Text | References | PDF (1 MB)
  • 494 Views
  • 8 CrossRef citations
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Case Reports

Case Report
Double hyperautofluorescent ring on fundus autofluorescence in ABCA4
Maria Fernanda Abalem, Cynthia X. Qian, Kari Branham, Dana Schlegel, Abigail T. Fahim, Naheed W. Khan, John R. Heckenlively & K. Thiran Jayasundera
Pages: 87-91
Published online: 20 Jul 2017
AbstractforDouble hyperautofluorescent ring on fundus autofluorescence in ABCA4 | Full Text | References | PDF (554.5 KB)
  • 216 Views
  • 2 CrossRef citations
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Report
Unusual retinopathy in a child with severe combined immune deficiency
Christina Gerth-Kahlert, Amit Tiwari, Mathias M. Hauri-Hohl, James V. M. Hanson, Angela Bahr, Anja Palmowski-Wolfe, Tayfun Güngör & Wolfgang Berger
Pages: 92-94
Published online: 16 Aug 2017
AbstractforUnusual retinopathy in a child with severe combined immune deficiency | Full Text | References | PDF (355.6 KB)
  • 213 Views
  • 0 CrossRef citations
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Case Report
Lack of FOXE3 coding mutation in a case of congenital aphakia
Yusuke Sano, Yusuke Matsukane, Akihisa Watanabe, Ko-hei Sonoda & Hiroyuki Kondo
Pages: 95-98
Published online: 14 Aug 2017
AbstractforLack of FOXE3 coding mutation in a case of congenital aphakia | Full Text | References | PDF (576.4 KB)
  • 139 Views
  • 3 CrossRef citations
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Case Report
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene
Jason H. Peragallo, Stephanie Keller, Marjo S. van der Knaap, Bruno P. Soares & Suma P. Shankar
Pages: 99-102
Published online: 18 Aug 2017
AbstractforRetinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene | Full Text | References | PDF (578.8 KB)
  • 295 Views
  • 21 CrossRef citations
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Case Report
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report
Isadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, Chong Ae Kim & Sérgio Luis Gianotti Pimentel
Pages: 103-107
Published online: 18 Aug 2017
AbstractforMultimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report | Full Text | References | PDF (719.4 KB)
  • 240 Views
  • 5 CrossRef citations
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Case Report
CNGB3 mutations cause severe rod dysfunction
J. Maguire, M. McKibbin, K. Khan, S. Kohl, M. Ali & D. McKeefry
Pages: 108-114
Published online: 20 Sep 2017
AbstractforCNGB3 mutations cause severe rod dysfunction | Full Text | References | PDF (763.3 KB)
  • 345 Views
  • 8 CrossRef citations
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Case Report
Three presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States
Jonathan W Kim, Bradley H. Jacobsen, Marcus Ko, Diana K Lee, Rima F Jubran & Jesse L Berry
Pages: 115-119
Published online: 26 Sep 2017
AbstractforThree presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States | Full Text | References | PDF (610.7 KB)
  • 159 Views
  • 2 CrossRef citations
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Case Report
A novel dominant CRX mutation causes adult-onset macular dystrophy
Joseph F. Griffith, Meghan J. DeBenedictis & Elias I. Traboulsi
Pages: 120-124
Published online: 25 Sep 2017
AbstractforA novel dominant CRX mutation causes adult-onset macular dystrophy | Full Text | References | PDF (669.4 KB)
  • 377 Views
  • 15 CrossRef citations
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Case Report
New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study
Maria Jesus Rodrigo, Miriam Idoipe, Silvia Izquierdo, Maria Satue, Antonio Mateo, Antonio Sanchez, Elena Garcia-Martin & Luis Pablo
Pages: 125-128
Published online: 20 Oct 2017
AbstractforNew pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study | Full Text | References | PDF (466.3 KB)
  • 171 Views
  • 5 CrossRef citations
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Letters to the Journal

Letter
Megalocornea associated with microduplications on chromosome 16
P. Samalia & A. Buller
Pages: 129-130
Published online: 28 Apr 2017
CitationforMegalocornea associated with microduplications on chromosome 16 | Full Text | References | PDF (213.4 KB)
  • 82 Views
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Letter
Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family
Britta Feldhaus, Susanne Kohl, Konstanze Hörtnagel, Nicole Weisschuh & Ditta Zobor
Pages: 131-134
Published online: 08 May 2017
First Page PreviewforNovel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family | Full Text | References | PDF (479.8 KB)
  • 134 Views
  • 3 CrossRef citations
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Letter
Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes
John (Pei-Wen) Chiang, Hongyu Luo, Jie Duan, Josef Ekstein & Yoel Hirsch
Pages: 135-136
Published online: 20 Jul 2017
CitationforFounder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes | Full Text | References | PDF (290.5 KB)
  • 341 Views
  • 1 CrossRef citations
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Letter
A novel GRK1 mutation in an Italian patient with Oguchi disease
Dario Pasquale Mucciolo, Andrea Sodi, Vittoria Murro, Ilaria Passerini, Simona Palchetti, Elisabetta Pelo, Gianni Virgili & Stanislao Rizzo
Pages: 137-138
Published online: 16 May 2017
CitationforA novel GRK1 mutation in an Italian patient with Oguchi disease | Full Text | References | PDF (268.4 KB)
  • 153 Views
  • 6 CrossRef citations
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Letter
A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing
Shuaimei Liu, Peiran Zhu, Mengxia Ni, Mingchao Zhang, Weijun Jiang, Maomao Yu, Jing Zhang, Qiuyue Wu, Weiwei Li, Chunyan Xue & Xinyi Xia
Pages: 139-140
Published online: 24 Aug 2017
CitationforA novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing | Full Text | References | PDF (290 KB)
  • 108 Views
  • 4 CrossRef citations
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Letter
Corneal ectasia in a boy with homozygous KERA mutation
Arif O. Khan
Pages: 141-143
Published online: 11 Aug 2017
First Page PreviewforCorneal ectasia in a boy with homozygous KERA mutation | Full Text | References | PDF (482.9 KB)
  • 91 Views
  • 2 CrossRef citations
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Letter
On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness
Laura Bryant, Olga Lozynska, Grace Han, Jessica I. W. Morgan, Xiaowu Gai, Albert M. Maguire, Tomas Aleman & Jean Bennett
Pages: 144-146
Published online: 14 Aug 2017
AbstractforOn variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness | Full Text | References | PDF (353 KB)
  • 205 Views
  • 3 CrossRef citations
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Letter to the Editor

Letter
Type I membranous anomaly in Stickler syndrome
Philip Alexander, Arabella Poulson, Annie McNinch, Allan Richards & Martin Snead
Page: 147
Published online: 30 May 2017
CitationforType I membranous anomaly in Stickler syndrome | Full Text | References | PDF (269.3 KB)
  • 130 Views
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List of Reviewers

List of reviewers for 2017
Page: 148
Published online: 20 Dec 2017
CitationforList of reviewers for 2017 | Full Text | PDF (87 KB)
  • 310 Views
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