Ophthalmic Genetics, Volume 34, Issue 1-2 (2013)

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Ophthalmic Genetics, Volume 34, Issue 1-2 (2013)

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Research Reports

Article
The Bcl-2/Bcl-XL inhibitor ABT-737 promotes death of retinoblastoma cancer cells
Nathalie Allaman-Pillet, Anne Oberson, Francis Munier & Daniel F. Schorderet
Pages: 1-13
Published online: 28 Sep 2011
AbstractforThe Bcl-2/Bcl-XL inhibitor ABT-737 promotes death of retinoblastoma cancer cells | Full Text | References | PDF (1.2 MB)
  • 274 Views
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Article
LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma
Roshanak Sharafieh, Anne H. Child, Peng T. Khaw, Brian Fleck & Mansoor Sarfarazi
Pages: 14-20
Published online: 27 Aug 2012
AbstractforLTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma | Full Text | References | PDF (635.3 KB)
  • 320 Views
  • 11 CrossRef citations
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Article
Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)
Jun-Hong Zhao, Tian-Bo Jin, Qing-Bo Liu, Chao Chen & Hai-Tao Hu
Pages: 21-26
Published online: 06 Sep 2012
AbstractforOphthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1) | Full Text | References | PDF (789 KB)
  • 243 Views
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Article
Human RNA Integrity After Postmortem Retinal Tissue Recovery
Luisa Montanini, Stefano Ferrari, Pellegrino Crafa, Stella Ghirardini, Diego Ponzin, Jelka G. Orsoni & Paolo Mora
Pages: 27-31
Published online: 06 Sep 2012
AbstractforHuman RNA Integrity After Postmortem Retinal Tissue Recovery | Full Text | References | PDF (551.1 KB)
  • 164 Views
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Article
Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States
John F. Stamler, Ben R. Roos, Michael D. Wagoner, Ken M. Goins, Anna S. Kitzmann, Janet B. Riley, Edwin M. Stone & John H. Fingert
Pages: 32-34
Published online: 24 Sep 2012
AbstractforConfirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States | Full Text | References | PDF (540.8 KB)
  • 195 Views
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Article
Novel susceptibility genes associated with diabetic cataract in a Taiwanese population
Hui-Ju Lin, Yu-Chuen Huang, Jane-Ming Lin, Wen-Ling Liao, Jer-Yuarn Wu, Chien-Hsiun Chen, Yi-Chun Chou, Liuh-An Chen, Chao-Jen Lin & Fuu-Jen Tsai
Pages: 35-42
Published online: 09 Nov 2012
AbstractforNovel susceptibility genes associated with diabetic cataract in a Taiwanese population | Full Text | References | PDF (714.4 KB)
  • 451 Views
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Article
Absence of an association between lumican promoter variants and high myopia in the Korean population
Shin Hae Park, Jeewon Mok & Choun-Ki Joo
Pages: 43-47
Published online: 12 Nov 2012
AbstractforAbsence of an association between lumican promoter variants and high myopia in the Korean population | Full Text | References | PDF (633.5 KB)
  • 185 Views
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Article
Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population
Alexander Bachernegg, Yosuf El-Shabrawi, Martin Weger & Georg Mossböck
Pages: 48-51
Published online: 09 Nov 2012
AbstractforRole of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population | Full Text | References | PDF (550.5 KB)
  • 74 Views
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Case Reports

Case Report
Choroidal neovascularization in Bardet-Biedl syndrome
Leon D. Charkoudian, David E. Barañano, Jorge Fortun, Jiong Yan & Sunil K. Srivastava
Pages: 52-54
Published online: 08 Apr 2013
AbstractforChoroidal neovascularization in Bardet-Biedl syndrome | Full Text | References | PDF (601.1 KB)
  • 116 Views
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Case Report
Corneal endothelial dysfunction in Pearson syndrome
Shivani A. Kasbekar, Jose A. Gonzalez-Martin, Ayad E. Shafiq, Arvind Chandna & Colin E. Willoughby
Pages: 55-57
Published online: 21 Sep 2011
AbstractforCorneal endothelial dysfunction in Pearson syndrome | Full Text | References | PDF (507.8 KB)
  • 175 Views
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Case Report
Infantile bilateral glaucoma in a child with ectodermal dysplasia
Michele Callea, Agatino Vinciguerra, Colin E. Willoughby, Laura Deroma & Gabriella Clarich
Pages: 58-60
Published online: 19 Mar 2012
AbstractforInfantile bilateral glaucoma in a child with ectodermal dysplasia | Full Text | References | PDF (557.3 KB)
  • 202 Views
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Case Report
Duane type I retraction syndrome associated with Wyburn-Mason syndrome
Dragana Vucic, Tanja Kalezic, Aleksandar Kostic, Milenko Stojkovic, Dijana Risimic & Branislav Stankovic
Pages: 61-64
Published online: 14 Jun 2012
AbstractforDuane type I retraction syndrome associated with Wyburn-Mason syndrome | Full Text | References | PDF (610.9 KB)
  • 153 Views
  • 2 CrossRef citations
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Case Report
Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family
Manav Sachdev, Anju Rastogi, Ankur Singh, Kamlesh Kumar, Seema Kapoor, Yuvika Bansal & Shilpa Goel
Pages: 65-68
Published online: 14 Jun 2012
AbstractforPhenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family | Full Text | References | PDF (707.8 KB)
  • 127 Views
  • 1 CrossRef citations
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Case Report
Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation
Andrea Russo, Luisa Delcassi, Eleonora Marchina & Francesco Semeraro
Pages: 69-74
Published online: 11 Jul 2012
AbstractforCorrelation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation | Full Text | References | PDF (663.4 KB)
  • 234 Views
  • 7 CrossRef citations
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Case Report
Abnormality in the external limiting membrane in early Stargardt Disease
Tomas R. Burke, Suzanne Yzer, Jana Zernant, R. Theodore Smith, Stephen H. Tsang & Rando Allikmets
Pages: 75-77
Published online: 07 Aug 2012
AbstractforAbnormality in the external limiting membrane in early Stargardt Disease | Full Text | References | PDF (628.1 KB)
  • 262 Views
  • 21 CrossRef citations
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Case Report
Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4
Aman Chandra, Jose Antonio Aragon-Martin, Saba Sharif, Manoj Parulekar, Anne Child & Gavin Arno
Pages: 78-82
Published online: 07 Aug 2012
AbstractforCraniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4 | Full Text | References | PDF (707.6 KB)
  • 351 Views
  • 15 CrossRef citations
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Case Report
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation
Nancy Hanna, Rachida Bouhenni, Balaji Gupta, Khaled K. Abu-Amero, Robert Wollmann & Deepak P. Edward
Pages: 83-86
Published online: 27 Aug 2012
AbstractforHistopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation | Full Text | References | PDF (733.8 KB)
  • 152 Views
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Case Report
Late recurrence of tumor necessitating enucleation in an adult onset retinoblastoma
Vikas Khetan, Gaurav Mathur, S. Krishna Kumar & Lingam Gopal
Pages: 87-89
Published online: 06 Sep 2012
AbstractforLate recurrence of tumor necessitating enucleation in an adult onset retinoblastoma | Full Text | References | PDF (684.4 KB)
  • 121 Views
  • 5 CrossRef citations
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Case Report
Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder
Khaled K. Abu-Amero, Altaf A. Kondkar, Mustafa A. M. Salih, Ibrahim A. Alorainy, Arif O. Khan, Darren T. Oystreck & Thomas M. Bosley
Pages: 90-96
Published online: 06 Sep 2012
AbstractforPartial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder | Full Text | References | PDF (712.1 KB)
  • 374 Views
  • 16 CrossRef citations
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Case Report
A novel translocation t(11;13) (q21;q14.2) in a child with suprasellar primitive neuroectodermal tumor and retinoblastoma
Stephen Huddleston, Rene Y. McNall-Knapp, Michael Siatkowski, Christine Odom, Rachel Brennan & Matthew W. Wilson
Pages: 97-100
Published online: 27 Aug 2012
AbstractforA novel translocation t(11;13) (q21;q14.2) in a child with suprasellar primitive neuroectodermal tumor and retinoblastoma | Full Text | References | PDF (740.3 KB)
  • 119 Views
  • 3 CrossRef citations
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Case Report
Blue cone monochromatism in a female due to skewed X-inactivation
Anja L. Frederiksen, Morten Duno & Lotte G. Welinder
Pages: 101-104
Published online: 24 Sep 2012
AbstractforBlue cone monochromatism in a female due to skewed X-inactivation | Full Text | References | PDF (1,003.6 KB)
  • 225 Views
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Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations
Catherine Cassiman, Werner Spileers, Elfride De Baere, Thomy de Ravel & Ingele Casteels
Pages: 105-108
Published online: 05 Oct 2012
AbstractforPeculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations | Full Text | References | PDF (757.6 KB)
  • 218 Views
  • 12 CrossRef citations
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Case Report
Congenital accessory palpebral aperture – An addition to the spectrum of Delleman syndrome
Aditi Manudhane, Ritu Arora, Seema Kapoor, Anju Rastogi & Jawahar Lal Goyal
Pages: 109-111
Published online: 06 Dec 2012
AbstractforCongenital accessory palpebral aperture – An addition to the spectrum of Delleman syndrome | Full Text | References | PDF (712.7 KB)
  • 94 Views
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Letters to the Editor

Letter
The relationship between vascular endothelial growth factor −2578C/A polymorphism and age-related macular degeneration
Gérard Lucotte & Nathalie Change
Pages: 112-114
Published online: 20 Aug 2012
First Page PreviewforThe relationship between vascular endothelial growth factor −2578C/A polymorphism and age-related macular degeneration | Full Text | References | PDF (536.9 KB)
  • 537 Views
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Free Access
Letter
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family
Flavio Faletra, Adamo Pio d’Adamo, Stefano Pensiero, Emmanouil Athanasakis, Dario Catalano, Irene Bruno & Paolo Gasparini
Pages: 115-117
Published online: 30 Jul 2012
AbstractforA Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family | Full Text | References | PDF (798.8 KB)
  • 769 Views
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Free Access

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