Ophthalmic Genetics, Volume 36, Issue 3 (2015)

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Ophthalmic Genetics, Volume 36, Issue 3 (2015)

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Review

Bestrophin 1 – Phenotypes and Functional Aspects in Bestrophinopathies
Caroline Pasquay, Lu Fei Wang, Birgit Lorenz & Markus N. Preising
Pages: 193-212
Published online: 12 Dec 2013
AbstractforBestrophin 1 – Phenotypes and Functional Aspects in Bestrophinopathies | Full Text | References | PDF (2.7 MB) | Supplemental
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Research Reports

Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus
Marilita M. Moschos, Nikolaos Kokolakis, Maria Gazouli, Irini P. Chatziralli, Dimitrios Droutsas, Nicholas P. Anagnou & Ioannis D. Ladas
Pages: 213-217
Published online: 07 Oct 2013
AbstractforPolymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus | Full Text | References | PDF (127.8 KB)
  • 178 Views
  • 27 CrossRef citations
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Three Variants of or near VEGF-A Gene are Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population
Yu Su, Xiongze Zhang, Chengguo Zuo, Meng Li, Kunfang Wu, Yuying Ji & Feng Wen
Pages: 218-223
Published online: 04 Dec 2013
AbstractforThree Variants of or near VEGF-A Gene are Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population | Full Text | References | PDF (132.6 KB)
  • 247 Views
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Association of LOC387715/ARMS2 (rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population
Fabio Endo Hirata, José Paulo Cabral de Vasconcellos, Flávio MacCord Medina, Priscila Hae Hyun Rim, Enzo Augusto Medeiros Fulco & Mônica Barbosa de Melo
Pages: 224-228
Published online: 30 Dec 2013
AbstractforAssociation of LOC387715/ARMS2 (rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population | Full Text | References | PDF (130.1 KB)
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Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis
Melis Palamar, Huseyin Onay, Ilgen Ertam, Esra Arslan Ates, Tugrul Dereli, Ferda Ozkinay & Ayse Yagci
Pages: 229-233
Published online: 07 Jan 2014
AbstractforGenotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis | Full Text | References | PDF (303.1 KB)
  • 287 Views
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Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome
Melissa Machado Viana, Maria Frasson, Henrique Galvão, Letícia Lima Leão, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha & Marcos José Burle de Aguiar
Pages: 234-238
Published online: 13 Jan 2014
AbstractforOcular Features in 16 Brazilian Patients with Williams-Beuren Syndrome | Full Text | References | PDF (323.3 KB)
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Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa
Maria L. Napier, Dash Durga, Clive J. Wolsley, Sarah Chamney, Sharon Alexander, Rosie Brennan, David A. Simpson, Giuliana Silvestri & Colin E. Willoughby
Pages: 239-243
Published online: 29 Sep 2014
AbstractforMutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa | Full Text | References | PDF (829.5 KB)
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Mutation Report

C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain
Yelena Bykhovskaya, Ana L. Caiado Canedo, Kenneth W. Wright & Yaron S. Rabinowitz
Pages: 244-247
Published online: 18 Oct 2013
AbstractforC.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain | Full Text | References | PDF (677.1 KB)
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Case Reports

Case Report
Outcomes of Intra- and Extraocular Retinoblastomas from a Single Institute in South India
Parag K. Shah, Venkatapathy Narendran & Narendran Kalpana
Pages: 248-250
Published online: 30 Dec 2013
AbstractforOutcomes of Intra- and Extraocular Retinoblastomas from a Single Institute in South India | Full Text | References | PDF (302 KB)
  • 129 Views
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Case Report
Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene
Amde Selassie Shifera & Christine Nichols Kay
Pages: 251-256
Published online: 15 Jan 2014
AbstractforEarly-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene | Full Text | References | PDF (2.2 MB)
  • 199 Views
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Case Report
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene
Jose A. Cordovez, Elias I. Traboulsi, Jenina E. Capasso, Karthikeyan Arcot Sadagopan, Anuradha Ganesh, Paul J. Rychwalski, Kimberly A. Neely, Scott E. Brodie & Alex V. Levin
Pages: 257-264
Published online: 10 Feb 2014
AbstractforRetinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene | Full Text | References | PDF (399.4 KB)
  • 414 Views
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Case Report
Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy
Rumana N. Hussain, Fatema L. Shahid, Theodoros Empeslidis & Soon Wai Ch’ng
Pages: 265-269
Published online: 29 Sep 2014
AbstractforUse of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy | Full Text | References | PDF (1.4 MB)
  • 257 Views
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Case Report
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy
Frederick T. Collison, Yajing (Angela) Xie, Tomasz Gambin, Shalini Jhangiani, Donna Muzny, Richard Gibbs, James R. Lupski, Gerald A. Fishman & Rando Allikmets
Pages: 270-275
Published online: 17 Feb 2015
AbstractforWhole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy | Full Text | References | PDF (1.4 MB)
  • 1860 Views
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Open Access
Case Report
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome
Lotte G. Welinder, Johane M. Robitaille, Rosemarie Rupps, Cornelius F. Boerkoel & Christopher J. Lyons
Pages: 276-280
Published online: 06 May 2015
AbstractforCongenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome | Full Text | References | PDF (582.8 KB)
  • 292 Views
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Letters to the Journal

Letter
A G57W Mutation of CRYGS Associated with Autosomal Dominant Pulverulent Cataracts in a Chinese Family
Zhenfei Yang, Qian Li, Siquan Zhu & Xu Ma
Pages: 281-283
Published online: 16 Dec 2013
First Page PreviewforA G57W Mutation of CRYGS Associated with Autosomal Dominant Pulverulent Cataracts in a Chinese Family | Full Text | References | PDF (342.1 KB)
  • 837 Views
  • 12 CrossRef citations
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Free Access
Letter
Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11
Jae-hyung Kim, Jung Min Ko & Hungwon Tchah
Pages: 284-286
Published online: 06 Feb 2014
AbstractforFuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11 | Full Text | References | PDF (308.8 KB)
  • 991 Views
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Free Access
Letter
High Risk Retinoblastoma: Prevalence and Success of Treatment in Developing Countries
H. ElZomor, H. Taha, A. Aleieldin, R. Nour, M. S. Zaghloul, M. Fawzi, A. Kamel & A. S. Alfaar
Pages: 287-289
Published online: 06 May 2015
First Page PreviewforHigh Risk Retinoblastoma: Prevalence and Success of Treatment in Developing Countries | Full Text | References | PDF (112 KB) | Supplemental
  • 1604 Views
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Free Access

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