Ophthalmic Genetics, Volume 37, Issue 3 (2016)

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Ophthalmic Genetics, Volume 37, Issue 3 (2016)

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Guest Editorial

Editorial
Ethical considerations in gene therapy
Alex V. Levin
Pages: 249-251
Published online: 08 Feb 2016
First Page PreviewforEthical considerations in gene therapy | Full Text | References | PDF (283.3 KB)
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Reviews

Review
Molecular biology and genetics of embryonic eyelid development
Tal J. Rubinstein, Adam C. Weber & Elias I. Traboulsi
Pages: 252-259
Published online: 11 Feb 2016
AbstractforMolecular biology and genetics of embryonic eyelid development | Full Text | References | PDF (808.1 KB)
  • 600 Views
  • 15 CrossRef citations
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Review
Argus II retinal prosthesis system: An update
Aleksandra V. Rachitskaya & Alex Yuan
Pages: 260-266
Published online: 08 Feb 2016
AbstractforArgus II retinal prosthesis system: An update | Full Text | References | PDF (586.7 KB)
  • 962 Views
  • 17 CrossRef citations
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Current Literature

Article
Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia
Stephanie C. Chan, Tania Bubela, Ioannis S. Dimopoulos, Paul R. Freund, Amir K. Varkouhi & Ian M. MacDonald
Pages: 267-275
Published online: 08 Feb 2016
AbstractforChoroideremia research: Report and perspectives on the second international scientific symposium for choroideremia | Full Text | References | PDF (955.5 KB)
  • 457 Views
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Research Reports

Report
Duane retraction syndrome in a patient with Duchenne muscular dystrophy
Thomas M. Bosley, Mustafa A. Salih, Hisham Alkhalidi, Darren T. Oystreck, Heba Y. El Khashab, Altaf A. Kondkar & Khaled K. Abu-Amero
Pages: 276-280
Published online: 05 Feb 2016
AbstractforDuane retraction syndrome in a patient with Duchenne muscular dystrophy | Full Text | References | PDF (471.6 KB)
  • 168 Views
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Report
The inheritance of corneal endothelial cell density
Adel Racz, Georgina Zsofia Toth, Adam Domonkos Tarnoki, David Laszlo Tarnoki, Levente Littvay, Ildiko Suveges, Zoltán Zsolt Nagy & Janos Nemeth
Pages: 281-284
Published online: 05 Feb 2016
AbstractforThe inheritance of corneal endothelial cell density | Full Text | References | PDF (406.5 KB)
  • 135 Views
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Report
Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy
Michelle Grunin, Liran Tiosano, Tareq Jaouni, Edward Averbukh, Dror Sharon & Itay Chowers
Pages: 285-289
Published online: 05 Feb 2016
AbstractforEvaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy | Full Text | References | PDF (425.9 KB)
  • 252 Views
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Report
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies
Arif O. Khan, Eva Decker, Nadine Bachmann, Hanno J. Bolz & Carsten Bergmann
Pages: 290-293
Published online: 08 Feb 2016
AbstractforC8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies | Full Text | References | PDF (432.9 KB)
  • 378 Views
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Report
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy
Nils Rahner, Gudrun Nuernberg, David Finis, Peter Nuernberg & Brigitte Royer-Pokora
Pages: 294-300
Published online: 11 Feb 2016
AbstractforA novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy | Full Text | References | PDF (717.3 KB)
  • 221 Views
  • 10 CrossRef citations
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Report
Phenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive CDH3 mutations)
Arif O. Khan & Hanno J. Bolz
Pages: 301-306
Published online: 17 Feb 2016
AbstractforPhenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive CDH3 mutations) | Full Text | References | PDF (697.1 KB)
  • 199 Views
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Mutation Report

Report
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations
Paola Primignani, Davide Allegrini, Emanuela Manfredini, Lorenza Romitti, Lucia Mauri, Maria Cristina Patrosso, Emanuela Veniani, Alessandra Franzoni, Alessandra Del Longo, Giovanni Pietro Gesu, Elena Piozzi, Giuseppe Damante & Silvana Penco
Pages: 307-313
Published online: 05 Feb 2016
AbstractforScreening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations | Full Text | References | PDF (662 KB)
  • 325 Views
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Case Reports

Case Report
Surgical repair of rhegmatogenous retinal detachment in eyes harboring active retinoblastoma
Yacoub A. Yousef, Mamdouh Manna, Mohammed B. Khalil & Ibrahim Nawaiseh
Pages: 314-317
Published online: 05 Feb 2016
AbstractforSurgical repair of rhegmatogenous retinal detachment in eyes harboring active retinoblastoma | Full Text | References | PDF (372.9 KB)
  • 136 Views
  • 8 CrossRef citations
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Case Report
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family
Ilaria Cosentino, Fabrizio Zeri, Peter G. Swann, Silvia Majore, Francesca Clementina Radio, Paolo Palumbo, Paola Grammatico & Vincenzo Petitti
Pages: 318-322
Published online: 05 Feb 2016
AbstractforHyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family | Full Text | References | PDF (601.8 KB)
  • 309 Views
  • 5 CrossRef citations
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Case Report
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations (‘STAR’) syndrome
Faruk H. Orge, Suhail A. Dar, Christie N. Blackburn, Sarah J. Grimes-Hodges & Anna L. Mitchell
Pages: 323-327
Published online: 16 Feb 2016
AbstractforOcular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations (‘STAR’) syndrome | Full Text | References | PDF (501 KB)
  • 280 Views
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Case Report
A novel homozygous MYO7A mutation involved in a Venezuelan population with high frequency of USHER1B
Horbelys O. Guzmán, Aura M. Palacios, María I. De Almada & René A. Utrera
Pages: 328-330
Published online: 11 Feb 2016
AbstractforA novel homozygous MYO7A mutation involved in a Venezuelan population with high frequency of USHER1B | Full Text | References | PDF (322.8 KB)
  • 134 Views
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Case Report
Glabellar dermoid cyst: A case presentation
Tuba Celik
Pages: 331-332
Published online: 17 Feb 2016
AbstractforGlabellar dermoid cyst: A case presentation | Full Text | References | PDF (277.5 KB)
  • 174 Views
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Case Report
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa
Rodrigo Matsui, David B. McGuigan III, Michaela L. Gruzensky, Tomas S. Aleman, Sharon B. Schwartz, Alexander Sumaroka, Robert K. Koenekoop, Artur V. Cideciyan & Samuel G. Jacobson
Pages: 333-338
Published online: 08 Feb 2016
AbstractforSPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa | Full Text | References | PDF (1.4 MB) | Supplemental
  • 284 Views
  • 12 CrossRef citations
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Letters to the Journal

Letter
Genetic variants in complement pathway and ARMS2/HTRA1 genes and risk of age-related macular degeneration in a homogeneous population from central Greece
A. N. Tsiloulis, F. Zacharaki, M. G. Kotoula, D. Z. Chatzoulis, M. A. Morrison, K. Mayne, E. Dardiotis, I. L. Stefanidis, P. Almpanidou, M. M. DeAngelis & E. E. Tsironi
Pages: 339-344
Published online: 05 Feb 2016
First Page PreviewforGenetic variants in complement pathway and ARMS2/HTRA1 genes and risk of age-related macular degeneration in a homogeneous population from central Greece | Full Text | References | PDF (537.1 KB)
  • 148 Views
  • 1 CrossRef citations
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Letter
Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing
Wei Xin, Xueshan Xiao, Shiqiang Li & Qingjiong Zhang
Pages: 345-348
Published online: 05 Feb 2016
First Page PreviewforLate-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing | Full Text | References | PDF (490.7 KB)
  • 328 Views
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Letter
Fish-eye disease: Another under-recognized cause of familial corneal opacification
Shailendra Kapoor
Page: 349
Published online: 08 Feb 2016
CitationforFish-eye disease: Another under-recognized cause of familial corneal opacification | Full Text | References | PDF (150.9 KB)
  • 88 Views
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Letter
Regarding corneal decompensation in recessive cornea plana
Amani AlBakri & Arif O. Khan
Pages: 350-351
Published online: 08 Feb 2016
CitationforRegarding corneal decompensation in recessive cornea plana | Full Text | References | PDF (211.7 KB)
  • 96 Views
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Letter
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability
Gabriela E. Jones, Lisa Robertson, Paul Warman, Emily V. Craft, Lara Cresswell & Pradeep C. Vasudevan
Pages: 352-353
Published online: 09 Feb 2016
Citationfor14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability | Full Text | References | PDF (233.1 KB)
  • 199 Views
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Letter
A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy
Kie Iida, Yasuhiro Ohkuma, Takaaki Hayashi, Satoshi Katagiri, Takeshi Fujita, Kazushige Tsunoda, Hisashi Yamada & Hiroshi Tsuneoka
Pages: 354-356
Published online: 08 Feb 2016
First Page PreviewforA novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy | Full Text | References | PDF (451.8 KB)
  • 157 Views
  • 2 CrossRef citations
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Letter
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45
Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, Isabelle Audo, Jose Alain Sahel, Saskia Biskup, Wilfried Carré, Alban Ziegler, Christian Wilhelm, Agnès Guichet, Sylvie Odent & Dominique Bonneau
Pages: 357-359
Published online: 22 Feb 2016
First Page PreviewforRun of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45 | Full Text | References | PDF (401.7 KB)
  • 215 Views
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