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Ophthalmic Genetics, Volume 30 Issue 1 2009

Ophthalmic Genetics is moving!
Official Journal of the International Society for Genetic Eye Disease and Retinoblastoma
ISSN: 1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency: 4 issues per year
Subjects: Genetics; Ophthalmology;
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Original Articles
Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)
Therése Hugosson;  Lotta Gränse;  Vesna Ponjavic; Sten Andréasson
Pages 1 – 6
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Duane Retraction Syndrome, Nystagmus, Retinal Pigment Epitheliopathy and Epiretinal Membrane with Micro- and Pachygyria, Developmental Delay, Hearing Loss and Craniopharyngioma
Savino D'Amelio;  Natalie Lassen;  Vasilis Vasiliou; J. Bronwyn Bateman
Pages 7 – 12
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Lack of Association Between Optineurin Gene Variants T34T, E50K, M98K, 691_692insAG and R545Q and Primary Open Angle Glaucoma in Brazilian Patients
Cristiano Caixeta-Umbelino;  José Paulo Cabral de Vasconcellos;  Vital Paulino Costa;  Niro Kasahara;  Maurício Della Paolera;  Geraldo Vicente de Almeida;  Ralph Cohen;  Carmo Mandia Jr.;  Mylene Neves Rocha;  Flávio Richeti;  Carlos Alberto Longui; Mônica Barbosa de Melo
Pages 13 – 18
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Uncommon Associations with Ataxia-Telangiectasia: Vitiligo and Optic Disc Drusen
Ayça Sari;  Çetin Okuyaz;  Ufuk Adiguzel; Nurcan Aras Ateş
Pages 19 – 22
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Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees
Johane M. Robitaille;  Karin Wallace;  Binyou Zheng;  M. Jill Beis;  Mark Samuels;  Ann Hoskin-Mott; Duane L. Guernsey
Pages 23 – 30
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The Effect of Therapy Refusal Against Medical Advice in Retinoblastoma Patients in a Setting Where Treatment Delays are Common
Rita S. Sitorus;  Annette C. Moll;  Setiowati Suhardjono;  Lumongga S. Simangunsong;  Pandu Riono;  Saskia Imhof; H. J. M. Völker-Dieben
Pages 31 – 36
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Congenital Alacrima in a Patient with Blepharophimosis Syndrome
Geetha K. Athappilly; Rebecca Sands Braverman
Pages 37 – 39
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Published International Classification of Retinoblastoma (ICRB) Definitions Contain Inconsistencies—An Analysis of Impact
Danielle E. Novetsky;  David H. Abramson;  Jonathan W. Kim; Ira J. Dunkel
Pages 40 – 44
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Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in the AAAS Gene
Cristina Villanueva-Mendoza;  Oswaldo Martínez-Guzmán;  David Rivera-Parra; Juan Carlos Zenteno
Pages 45 – 49
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Cystoid Macular Edema in a Patient with Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy
Jacob W. Brubaker;  Brian G. Mohney; Jose S. Pulido
Pages 50 – 53
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LCA5, a Rare Genetic Cause of Leber Congenital Amaurosis in Koreans
Moon-Woo Seong;  Seong Yeon Kim;  Young Suk Yu;  Jeong-Min Hwang;  Ji Yeon Kim; Sung Sup Park
Pages 54 – 55
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