Ophthalmic Genetics, Volume 30, Issue 4 (2009)

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Ophthalmic Genetics, Volume 30, Issue 4 (2009)

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Original Article

Article
Microcephaly with chorioretinal dysplasia: Two case reports and a review of the literature
Abha Gupta, P. Vasudevan, S. Biswas, J. Clayton Smith, Anthony T. Moore, Chris Lloyd & G. Dutton
Pages: 157-160
Published online: 23 Oct 2009
AbstractforMicrocephaly with chorioretinal dysplasia: Two case reports and a review of the literature | Full Text | References | PDF (848.1 KB)
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Article
Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population
Saleh Abu Asleh, Michal Lederman, Orly Weinstein, Smadar Horowitz, Tal Meir, Amnon Lahad, Nurit Goldstein, Dror Sharon, Shoshana Israel & Itay Chowers
Pages: 161-164
Published online: 23 Oct 2009
AbstractforLack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population | Full Text | References | PDF (536.9 KB)
  • 95 Views
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Article
Subclinical optic neuropathy in Fabry disease
Susanne Pitz, Kathrin Grube-Einwald, Giulia Renieri & Jörg Reinke
Pages: 165-171
Published online: 23 Oct 2009
AbstractforSubclinical optic neuropathy in Fabry disease | Full Text | References | PDF (842 KB)
  • 170 Views
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Article
Retinal pathology of a patient with Goldmann-Favre Syndrome
Vera L. Bonilha, Gerald A. Fishman, Mary E. Rayborn & Joe G. Hollyfield
Pages: 172-180
Published online: 23 Oct 2009
AbstractforRetinal pathology of a patient with Goldmann-Favre Syndrome | Full Text | References | PDF (1.5 MB)
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Article
Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita
Charles A. Johnson, Mark Hatfield & Jose S. Pulido
Pages: 181-184
Published online: 23 Oct 2009
AbstractforRetinal vasculopathy in a family with autosomal dominant dyskeratosis congenita | Full Text | References | PDF (821.3 KB)
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Article
Characterization of CTNS mutations in Arab patients with Cystinosis
Mohammed A. Aldahmesh, Amal Humeidan, Hamad A. Almojalli, Arif O. Khan, Mohammed Rajab, Abbas A. AL-Abbad, Brian F. Meyer & Fowzan S. Alkuraya
Pages: 185-189
Published online: 23 Oct 2009
AbstractforCharacterization of CTNS mutations in Arab patients with Cystinosis | Full Text | References | PDF (1.3 MB)
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Article
Autofluorescence and Infrared Retinal Imaging in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis
John P. Kelly, Avery H. Weiss, Gus Rowell & Gail M. Seigel
Pages: 190-198
Published online: 23 Oct 2009
AbstractforAutofluorescence and Infrared Retinal Imaging in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis | Full Text | References | PDF (1.1 MB)
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Article
Diagnosis of Retinoblastoma: How good are referring physicians?
Jesse L. Maki, Brian P. Marr & David H. Abramson
Pages: 199-205
Published online: 23 Oct 2009
AbstractforDiagnosis of Retinoblastoma: How good are referring physicians? | Full Text | References | PDF (841.8 KB)
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Letter to the Editor

Letter
Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus
Arif O. Khan, Dania S. Khalil, Latifa J. Al-Sharif & Nada A. Al-Tassan
Pages: 206-207
Published online: 23 Oct 2009
CitationforMutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus | Full Text | References | PDF (567.9 KB)
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Free Access

Errata

Correction
Erratum
Page: 208
Published online: 23 Oct 2009
CitationforErratum | Full Text | PDF (496.3 KB)
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