Ophthalmic Genetics, Volume 37, Issue 4 (2016)

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Ophthalmic Genetics, Volume 37, Issue 4 (2016)

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Marshall Parks Lecture 2015

Report
Myopia—The future progression of myopia: Seeing where we are going
David A. Mackey
Pages: 361-365
Published online: 02 Nov 2016
AbstractforMyopia—The future progression of myopia: Seeing where we are going | Full Text | References | PDF (507.9 KB)
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Review

Review
OR2W3 sequence variants are unlikely to cause inherited retinal diseases
Dror Sharon, Adva Kimchi & Carlo Rivolta
Pages: 366-368
Published online: 18 Feb 2016
AbstractforOR2W3 sequence variants are unlikely to cause inherited retinal diseases | Full Text | References | PDF (281.9 KB)
  • 346 Views
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Review
Retinal disease in the C3 glomerulopathies and the risk of impaired vision
J. Savige, L. Amos, Frank Ierino, H. G. Mack, R. C. Andrew Symons, P. Hughes, K. Nicholls & D. Colville
Pages: 369-376
Published online: 25 Feb 2016
AbstractforRetinal disease in the C3 glomerulopathies and the risk of impaired vision | Full Text | References | PDF (732.7 KB)
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Research Reports

Report
Macular cystoid spaces in patients with retinal dystrophy
Michelle D. Lingao, Anuradha Ganesh, Arcot S. Karthikeyan, Sana Al Zuhaibi, Amna Al-Hosni, Aisha Al Khayat, Jenina Capasso, Anya A. Trumler, Eliza Stroh, Hilal Al Shekaili, Jacqueline R. Cater & Alex V. Levin
Pages: 377-383
Published online: 19 Feb 2016
AbstractforMacular cystoid spaces in patients with retinal dystrophy | Full Text | References | PDF (630.3 KB)
  • 491 Views
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Report
Association study of the common polymorphisms in the folate-methionine pathway with retinoblastoma
Elaheh Soleimani, Kioomars Saliminejad, Mohammad Taghi Akbari, Koorosh Kamali & Ali Ahani
Pages: 384-387
Published online: 25 Feb 2016
AbstractforAssociation study of the common polymorphisms in the folate-methionine pathway with retinoblastoma | Full Text | References | PDF (353.5 KB)
  • 146 Views
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Report
Evaluating VEGFR1 genetic polymorphisms as a predisposition to AMD in a cohort from northern China
Wei Xiang, Wenjuan Zhuang, Hao Chi, Xunlun Sheng, Wen Zhang, Zhongqi Xue, Bo Pan & Yang Liu
Pages: 388-393
Published online: 25 Feb 2016
AbstractforEvaluating VEGFR1 genetic polymorphisms as a predisposition to AMD in a cohort from northern China | Full Text | References | PDF (519.9 KB)
  • 127 Views
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Report
ENOS polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Chinese Han population
Chengguo Zuo, Meng Li, Xiongze Zhang, Hui Chen, Yu Su, Kunfang Wu & Feng Wen
Pages: 394-399
Published online: 25 Feb 2016
AbstractforENOS polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Chinese Han population | Full Text | References | PDF (473 KB) | Supplemental
  • 181 Views
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Report
Patterns of subretinal fluid resolution in Group D eyes treated with chemoreduction: Experience from the Children’s Hospital Los Angeles/University of Southern California
Jesse L. Berry, Grace Shih, Stavros N. Moysidis, Rima Jubran, Kenneth Wong, Thomas C. Lee, A. Linn Murphree & Jonathan W. Kim
Pages: 400-403
Published online: 02 Mar 2016
AbstractforPatterns of subretinal fluid resolution in Group D eyes treated with chemoreduction: Experience from the Children’s Hospital Los Angeles/University of Southern California | Full Text | References | PDF (365.9 KB)
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Report
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia
Cristy A. Ku, Jacqueline K. Ng, Daniel J. Karr, Leah Reznick, Cary O. Harding, Richard G. Weleber & Mark E. Pennesi
Pages: 404-414
Published online: 15 Mar 2016
AbstractforSpectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia | Full Text | References | PDF (1 MB)
  • 564 Views
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Report
Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort
Hatip Aydin, Murat Gunay, Gokhan Celik, Betul Onal Gunay, Umeyye Taka Aydin & Ali Karaman
Pages: 415-418
Published online: 28 Mar 2016
AbstractforEvaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort | Full Text | References | PDF (409 KB) | Supplemental
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Case Reports

Case Report
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5
Hana Kolarova, Petra Liskova, Marketa Tesarova, Vendula Kucerova Vidrova, Martin Forgac, Josef Zamecnik, Hana Hansikova & Tomas Honzik
Pages: 419-423
Published online: 19 Feb 2016
AbstractforUnique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5 | Full Text | References | PDF (559.9 KB)
  • 402 Views
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Case Report
Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene
Yu-Hung Lai, Jenina E. Capasso, Richard Kaiser & Alex V. Levin
Pages: 424-426
Published online: 19 Feb 2016
AbstractforIntraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene | Full Text | References | PDF (341.3 KB)
  • 290 Views
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Case Report
Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome
Paula Larrañaga-Fragoso, Natalia Pastora, Luciano Bravo-Ljubetic, Jesús Peralta & José Abelairas-Gómez
Pages: 427-429
Published online: 19 Feb 2016
AbstractforTopical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome | Full Text | References | PDF (418.8 KB)
  • 197 Views
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Case Report
Prenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India
Parag K. Shah, S. Sripriya, V. Narendran & A. J. Pandian
Pages: 430-433
Published online: 25 Feb 2016
AbstractforPrenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India | Full Text | References | PDF (459.7 KB)
  • 270 Views
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Case Report
Further evidence for heredity of pterygium
Vito Romano, Bernhard Steger, Adriana Kovacova, Stephen B. Kaye & Colin E. Willoughby
Pages: 434-436
Published online: 02 Mar 2016
AbstractforFurther evidence for heredity of pterygium | Full Text | References | PDF (314.7 KB)
  • 179 Views
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Case Report
Trabeculectomy in eyes with unsuspected retinoblastoma
Bhavna Chawla, Maya Hada, Rachna Seth, Seema Sen, Viney Gupta, Seema Kashyap & Pinto C. Narasimhaiah
Pages: 437-440
Published online: 11 Mar 2016
AbstractforTrabeculectomy in eyes with unsuspected retinoblastoma | Full Text | References | PDF (449.9 KB)
  • 90 Views
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Case Report
Bilateral retinal hemorrhages following finger pressure against the soft palate (الترفيع) in recessive CRB1-related retinopathy
Inam N. Bifari & Arif O. Khan
Pages: 441-444
Published online: 23 Mar 2016
AbstractforBilateral retinal hemorrhages following finger pressure against the soft palate (الترفيع) in recessive CRB1-related retinopathy | Full Text | References | PDF (598.1 KB) | Supplemental
  • 143 Views
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Case Report
Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization
Nicole M. Fuerst, Leona Serrano, Grace Han, Jessica I. W. Morgan, Albert M. Maguire, Bart P. Leroy, Benjamin J. Kim & Tomas S. Aleman
Pages: 445-452
Published online: 30 Mar 2016
AbstractforDetailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization | Full Text | References | PDF (915.7 KB)
  • 354 Views
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Letters to the Journal

Letter
Pattern dystrophy in a female carrier of RP2 mutation
Dina Misky, Tremeur Guillaumie, Corinne Baudoin, Béatrice Bocquet, Magali Beltran, Josseline Kaplan, Claire-Marie Dhaenens, Jean-Paul Bonnefont, Isabelle Meunier & Christian P. Hamel
Pages: 453-455
Published online: 17 Feb 2016
First Page PreviewforPattern dystrophy in a female carrier of RP2 mutation | Full Text | References | PDF (461 KB) | Supplemental
  • 224 Views
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Letter
Genetic variants in MiR-29a associated with high myopia
Mingkun Xie, Yating Li, Jing Wu & Jin Wu
Pages: 456-458
Published online: 17 Feb 2016
First Page PreviewforGenetic variants in MiR-29a associated with high myopia | Full Text | References | PDF (352.4 KB) | Supplemental
  • 407 Views
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Letter
Evaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil
Daniela Prescila Dezidério Sacconi, José Paulo Cabral de Vasconcellos, Fábio Endo Hirata, Flávio MacCord Medina, Priscila Hae Hyun Rim & Mônica Barbosa de Melo
Pages: 459-461
Published online: 04 Mar 2016
First Page PreviewforEvaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil | Full Text | References | PDF (285 KB)
  • 186 Views
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Letter
Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy
Hiroyuki Kondo, Itsuka Matsushita, Tomoko Tahira, Eiichi Uchio & Shunji Kusaka
Pages: 462-464
Published online: 02 Mar 2016
First Page PreviewforMutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy | Full Text | References | PDF (495.5 KB) | Supplemental
  • 359 Views
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Letter
Evaluation of C-reactive protein and CC-cytokine ligand 2 polymorphism interaction for age-related macular degeneration
Mohammad Hossein Jabbarpoor Bonyadi, Tahereh Mohammadian, Mortaza Bonyadi, Masoud Soheilian, Hamidreza Moein & Mehdi Yaseri
Pages: 465-467
Published online: 03 Mar 2016
First Page PreviewforEvaluation of C-reactive protein and CC-cytokine ligand 2 polymorphism interaction for age-related macular degeneration | Full Text | References | PDF (282.9 KB)
  • 105 Views
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Letter
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype
Maxwell W. Dixon, Maxwell S. Stem, Jane L. Schuette, Catherine E. Keegan & Cagri G. Besirli
Pages: 468-470
Published online: 11 Mar 2016
First Page PreviewforCTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype | Full Text | References | PDF (411.8 KB)
  • 533 Views
  • 23 CrossRef citations
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Letter
Novel mutations in the L visual pigment gene found in Japanese men with protan color-vision defect having a normal order L/M gene array
Sanae Muraki, Hisao Ueyama, Shoko Tanabe, Shinichi Yamade, Hisakazu Ogita & Masahito Ohji
Pages: 471-472
Published online: 11 Mar 2016
CitationforNovel mutations in the L visual pigment gene found in Japanese men with protan color-vision defect having a normal order L/M gene array | Full Text | References | PDF (351 KB) | Supplemental
  • 106 Views
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Letter
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient
Lubica Dudakova, Michalis Palos, Katerina Jirsova, Pavlina Skalicka, Pavel Dundr & Petra Liskova
Pages: 473-474
Published online: 30 Mar 2016
CitationforNovel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient | Full Text | References | PDF (272.4 KB)
  • 173 Views
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Miscellaneous

Editorial Board EOV
Page: ebi
Published online: 02 Nov 2016
CitationforEditorial Board EOV | Full Text | PDF (50 KB)
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