Ophthalmic Genetics, Volume 38, Issue 6 (2017)

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Ophthalmic Genetics, Volume 38, Issue 6 (2017)

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Review

Review
Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye
Joanna Swierkowska & Marzena Gajecka
Pages: 501-510
Published online: 28 Apr 2017
AbstractforGenetic factors influencing the reduction of central corneal thickness in disorders affecting the eye | Full Text | References | PDF (858 KB) | Supplemental
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Research Reports

Report
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S. Silva, Nikolas Pontikos, Virginie Puech, Michelle E. McClements, David M. Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R. Webster, Anthony T. Moore & Bernard Puech
Pages: 511-519
Published online: 02 Mar 2017
AbstractforGenome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities | Full Text | References | PDF (1.6 MB) | Supplemental
  • 313 Views
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Report
Microarray-based analysis of gene expression profiles in peripheral blood of patients with acute primary angle closure
Jin Wook Jeoung, Jung Hwa Ko, Yu Jeong Kim, Yong Woo Kim, Ki Ho Park & Joo Youn Oh
Pages: 520-526
Published online: 21 Mar 2017
AbstractforMicroarray-based analysis of gene expression profiles in peripheral blood of patients with acute primary angle closure | Full Text | References | PDF (755.4 KB) | Supplemental
  • 203 Views
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Report
Diagnosed cataracts in patients with cystic fibrosis in a United States administrative database
Nicholas J. Everage, Yan Bai, Brett Loop, Nataliya Volkova, Nan Liu & Cheryl Enger
Pages: 527-532
Published online: 10 Apr 2017
AbstractforDiagnosed cataracts in patients with cystic fibrosis in a United States administrative database | Full Text | References | PDF (481.9 KB)
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Report
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2
Puneeth H. Somashekar, Anju Shukla & Katta M. Girisha
Pages: 533-536
Published online: 07 Apr 2017
AbstractforIntrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2 | Full Text | References | PDF (494.4 KB) | Supplemental
  • 230 Views
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Report
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians
Katherine A. van Bysterveldt, Rasha al Taie, Will Ikink, Verity F. Oliver & Andrea L. Vincent
Pages: 537-543
Published online: 10 Apr 2017
AbstractforADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians | Full Text | References | PDF (917.4 KB) | Supplemental
  • 414 Views
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Report
Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani & Khalid Al Thihli
Pages: 544-548
Published online: 16 May 2017
AbstractforCo-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib | Full Text | References | PDF (575.4 KB)
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Mutation Report

Report
Reversal of cystoid macular edema in gyrate atrophy patients
Dan Heller, Chen Weiner, Iris Nasie, Yair Anikster, Yuval Landau, Tal Koren, Russell Pokroy, Adi Abulafia & Eran Pras
Pages: 549-554
Published online: 07 Apr 2017
AbstractforReversal of cystoid macular edema in gyrate atrophy patients | Full Text | References | PDF (725.9 KB)
  • 340 Views
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Case Reports

Case Report
Retinal capillaritis in a CRB1-associated retinal dystrophy
Vittoria Murro, Dario Pasquale Mucciolo, Andrea Sodi, Lorenzo Vannozzi, Cinzia De Libero, Gabriele Simonini & Stanislao Rizzo
Pages: 555-558
Published online: 27 Jan 2017
AbstractforRetinal capillaritis in a CRB1-associated retinal dystrophy | Full Text | References | PDF (472.6 KB)
  • 396 Views
  • 13 CrossRef citations
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Case Report
Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1
Julius T. Oatts, Jacque L. Duncan, Creig S. Hoyt, Anne M. Slavotinek & Anthony T. Moore
Pages: 559-561
Published online: 02 Mar 2017
AbstractforInner retinal dystrophy in a patient with biallelic sequence variants in BRAT1 | Full Text | References | PDF (373.2 KB)
  • 300 Views
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Case Report
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa
Marta Latasiewicz, Anna Paola Salvetti & Robert E. MacLaren
Pages: 562-566
Published online: 28 Apr 2017
AbstractforA novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa | Full Text | References | PDF (617.1 KB) | Supplemental
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Case Report
Retinal pigment epithelium–photoreceptor layer alterations in a patient with Sturge–Weber syndrome with diffuse choroidal hemangioma
Solmaz Abdolrahimzadeh, Francesco Parisi, Flavio Mantelli, Andrea Perdicchi & Gianluca Scuderi
Pages: 567-569
Published online: 28 Apr 2017
AbstractforRetinal pigment epithelium–photoreceptor layer alterations in a patient with Sturge–Weber syndrome with diffuse choroidal hemangioma | Full Text | References | PDF (414.3 KB)
  • 205 Views
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Case Report
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance
Joshua S. Hardin, G. Bradley Schaefer, Ahmed B. Sallam, M. Kathryn Williams & Sami Uwaydat
Pages: 570-574
Published online: 08 May 2017
AbstractforA unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance | Full Text | References | PDF (538.7 KB)
  • 240 Views
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Case Report
Peripapillary sparing in RDH12-associated Leber congenital amaurosis
Aakriti Garg, Winston Lee, Jesse D. Sengillo, Rando Allikmets, Kartik Garg & Stephen H. Tsang
Pages: 575-579
Published online: 17 May 2017
AbstractforPeripapillary sparing in RDH12-associated Leber congenital amaurosis | Full Text | References | PDF (668.9 KB) | Supplemental
  • 290 Views
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Letters to the Journal

Letter
Seeing the diagnosis on karyotype—SOX2 and eye development
Jennifer Mulvihill, Ajoy Sarkar & Abhijit Dixit
Pages: 580-583
Published online: 01 Mar 2017
First Page PreviewforSeeing the diagnosis on karyotype—SOX2 and eye development | Full Text | References | PDF (600.1 KB)
  • 132 Views
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Letter
White orbital mass after enucleation for retinoblastoma: The power of illusion
Sameh E. Soliman, William Halliday, Furqan Shaikh, Helen Chan, Elise Hèon & Brenda L. Gallie
Pages: 584-586
Published online: 17 Mar 2017
First Page PreviewforWhite orbital mass after enucleation for retinoblastoma: The power of illusion | Full Text | References | PDF (417.2 KB)
  • 138 Views
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Letter
A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone–rod dystrophy
Ga-In Lee, Chung Lee, Sam Subramanian, Nayoung K. D. Kim, Chang-Seok Ki, Woong-Yang Park, Byoung Joon Kim & Sang Jin Kim
Pages: 587-589
Published online: 07 Apr 2017
First Page PreviewforA novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone–rod dystrophy | Full Text | References | PDF (428.3 KB)
  • 382 Views
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Letter
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature
Claudio Graziano, Elena Gusson, Giulia Severi, Federica Isidori, Anita Wischmeijer, Milena Brugnara, Marco Seri & Cesare Rossi
Pages: 590-592
Published online: 04 May 2017
First Page PreviewforA de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature | Full Text | References | PDF (332.5 KB)
  • 355 Views
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Editorial Board

Editorial Board EOV
Page: ebi
Published online: 22 Nov 2017
CitationforEditorial Board EOV | Full Text | PDF (50.5 KB)
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