Ophthalmic Genetics, Volume 38, Issue 1 (2017)

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Ophthalmic Genetics, Volume 38, Issue 1 (2017)

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Festschrift Honoring Irene Hussels Maumenee

Festschrift: Guest Editorial

Editorial
What I learned from Irene Hussels Maumenee
Arlene V. Drack
Page: 1
Published online: 08 Feb 2017
CitationforWhat I learned from Irene Hussels Maumenee | Full Text | PDF (160.3 KB)
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Free Access

Festschrift: Reviews

Review
Reconciling genotype with phenotype: Lessons learned on the Arabian Peninsula
Arif O. Khan
Pages: 2-6
Published online: 13 Jan 2017
AbstractforReconciling genotype with phenotype: Lessons learned on the Arabian Peninsula | Full Text | References | PDF (567 KB)
  • 121 Views
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Review
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee
Razek Georges Coussa, Irma Lopez Solache & Robert K. Koenekoop
Pages: 7-15
Published online: 17 Jan 2017
AbstractforLeber congenital amaurosis, from darkness to light: An ode to Irene Maumenee | Full Text | References | PDF (698.2 KB)
  • 388 Views
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Festschrift: Research Reports

Report
Ophthalmic artery chemosurgery for eyes with advanced retinoblastoma
David H. Abramson, Armida W. M. Fabius, Jasmine H. Francis, Brian P. Marr, Ira J. Dunkel, Scott E. Brodie, Anna Escuder & Y. Pierre Gobin
Pages: 16-21
Published online: 17 Jan 2017
AbstractforOphthalmic artery chemosurgery for eyes with advanced retinoblastoma | Full Text | References | PDF (1.3 MB) | Supplemental
  • 405 Views
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Report
The clinical evaluation of infantile nystagmus: What to do first and why
Morgan Bertsch, Michael Floyd, Taylor Kehoe, Wanda Pfeifer & Arlene V. Drack
Pages: 22-33
Published online: 08 Feb 2017
AbstractforThe clinical evaluation of infantile nystagmus: What to do first and why | Full Text | References | PDF (1.2 MB)
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Report
Comparative data on SD-OCT for the retinal nerve fiber layer and retinal macular thickness in a large cohort with Marfan syndrome
WanWan Xu, Sudhi P. Kurup, Amani A. Fawzi, Mary K. Durbin, Irene H. Maumenee & Marilyn B. Mets
Pages: 34-38
Published online: 17 Jan 2017
AbstractforComparative data on SD-OCT for the retinal nerve fiber layer and retinal macular thickness in a large cohort with Marfan syndrome | Full Text | References | PDF (539.9 KB)
  • 127 Views
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Report
PROM1 gene variations in Brazilian patients with macular dystrophy
Mariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patricia Varela Lima Teixeira, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Martin, João Bosco Pesquero & Juliana Maria Ferraz Sallum
Pages: 39-42
Published online: 17 Jan 2017
AbstractforPROM1 gene variations in Brazilian patients with macular dystrophy | Full Text | References | PDF (526.7 KB)
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Festschrift: Mutation Report

Report
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome
Stuart W. Tompson, Charles Johnson, Diana Abbott, Benjamin Bakall, Vincent Soler, Tammy L. Yanovitch, Kristina N. Whisenhunt, Thomas Klemm, Steve Rozen, Edwin M. Stone, Max Johnson & Terri L. Young
Pages: 43-50
Published online: 17 Jan 2017
AbstractforReduced penetrance in a large Caucasian pedigree with Stickler syndrome | Full Text | References | PDF (877.2 KB) | Supplemental
  • 392 Views
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Festschrift: Case Report

Case Report
Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies
Mrinali P. Gupta, Katherine E. Talcott, David Y. Kim, Suneet Agarwal & Shizuo Mukai
Pages: 51-60
Published online: 17 Jan 2017
AbstractforRetinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies | Full Text | References | PDF (1 MB)
  • 425 Views
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Research Reports

Report
Association of polymorphisms in complement component 3 with age-related macular degeneration in an Iranian population
Mortaza Bonyadi, Tahereh Mohammadian, Mohammad Hossein Jabbarpoor Bonyadi, Nikou Fotouhi, Masoud Soheilian, Alireza Javadzadeh, Hamidreza Moein & Mehdi Yaseri
Pages: 61-66
Published online: 30 Mar 2016
AbstractforAssociation of polymorphisms in complement component 3 with age-related macular degeneration in an Iranian population | Full Text | References | PDF (569.8 KB)
  • 141 Views
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Report
Ophthalmological findings in 74 patients with mitochondrial disease
Cheng-Cheng Zhu, Elias I. Traboulsi & Sumit Parikh
Pages: 67-69
Published online: 30 Mar 2016
AbstractforOphthalmological findings in 74 patients with mitochondrial disease | Full Text | References | PDF (333.2 KB) | Supplemental
  • 599 Views
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Report
Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa
Masako Sugahara, Maho Oishi, Akio Oishi, Ken Ogino, Satoshi Morooka, Norimoto Gotoh, Inyeop Kang & Nagahisa Yoshimura
Pages: 70-73
Published online: 30 Mar 2016
AbstractforScreening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa | Full Text | References | PDF (500.3 KB) | Supplemental
  • 191 Views
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Report
Long-term audiologic follow-up of carboplatin-treated children with retinoblastoma
Madelon L. Geurtsen, Wijnanda A. Kors, Annette C. Moll & Cas Smits
Pages: 74-78
Published online: 06 Apr 2016
AbstractforLong-term audiologic follow-up of carboplatin-treated children with retinoblastoma | Full Text | References | PDF (572.1 KB)
  • 1399 Views
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Open Access

Case Reports

Case Report
Bilateral macular holes and a new onset vitelliform lesion in Best disease
Jingshu Liu, Yi Xuan, Yongjin Zhang, Wei Liu & Gezhi Xu
Pages: 79-82
Published online: 31 Mar 2016
AbstractforBilateral macular holes and a new onset vitelliform lesion in Best disease | Full Text | References | PDF (529.6 KB) | Supplemental
  • 256 Views
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Case Report
Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report
Antonio Agresta, Romina Fasciani, Luca Padua, Sergio Petroni, Ilaria La Torraca, Anna Dickmann, Giuseppe Zampino & Aldo Caporossi
Pages: 83-87
Published online: 07 Apr 2016
AbstractforCorneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report | Full Text | References | PDF (613 KB)
  • 147 Views
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Case Report
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report
Matthew D. Benson, Patrick Ferreira & Ian M. MacDonald
Pages: 88-90
Published online: 07 Apr 2016
AbstractforOculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report | Full Text | References | PDF (436.4 KB) | Supplemental
  • 297 Views
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Case Report
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations
Natario L. Couser, Julie McClure, Michael W. Evans, Nathan R. Haines, Susan K. Burden & Joseph Muenzer
Pages: 91-94
Published online: 04 Apr 2016
AbstractforHomocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations | Full Text | References | PDF (401.7 KB)
  • 267 Views
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Letters to the Journal

Letter
Association of polymorphisms in APOE and LOXL1 with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a Turkish population
Fulya Yaylacioğlu Tuncay, Zeynep Aktaş, Mehmet Ali Ergün, Sezin Güntekin Ergün, Murat Hasanreisoğlu & Berati Hasanreisoğlu
Pages: 95-97
Published online: 30 Mar 2016
First Page PreviewforAssociation of polymorphisms in APOE and LOXL1 with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a Turkish population | Full Text | References | PDF (287 KB)
  • 251 Views
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Letter
Ultra-widefield fundus autofluorescence patterns in retinitis pigmentosa and other retinal dystrophies
George Trichonas, Elias I. Traboulsi & Justis P. Ehlers
Pages: 98-100
Published online: 06 Apr 2016
First Page PreviewforUltra-widefield fundus autofluorescence patterns in retinitis pigmentosa and other retinal dystrophies | Full Text | References | PDF (346.2 KB)
  • 224 Views
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