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Ophthalmic Genetics, Volume 29 Issue 3 2008

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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Editorial
Successful RPE65 Gene Replacement and Improved Visual Function in Humans
Robert K. Koenekoop
Pages 89 – 91
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Franceschetti Lecture 2008
Leber Congenital Amaurosis: From Darkness to Spotlight
Josseline Kaplan
Pages 92 – 98
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Research Articles
Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier
Vera L. Bonilha;  Karmen M. Trzupek;  Yong Li;  Peter J. Francis;  Joe G. Hollyfield;  Mary E. Rayborn;  Nizar Smaoui; Richard G. Weleber
Pages 99 – 110
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The Role of Mitochondrial Haplogroups in Non-arteritic Anterior Ischemic Optic Neuropathy
Khaled K. Abu-Amero;  Jose M. Larruga;  Ana M. González; Thomas M. Bosley
Pages 111 – 116
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The Frequency of the H402 Allele of CFH and Its Involvement with Age-Related Maculopathy in an Aged Black African Xhosa Population
Ari Ziskind;  Soraya Bardien;  Lize van der Merwe; Andrew R. Webster
Pages 117 – 119
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Case Reports
Trilateral Retinoblastoma with Pituitary-Hypothalamic Dysfunction
Shuan Dai;  Elise Héon;  Andrew Budning;  Helen Dimaras;  John Doyle;  William Halliday;  James Drake;  Brenda L. Gallie; Helen S. L. Chan
Pages 120 – 125
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Familial Aortic Dissection and Congenital Iris Flocculi with Hypertension
Prasit Phowthongkum;  Patinut Burapasubkajorn;  Pongsak Intarabeth;  Wasin Buddhari; Weerapan Kowitoonkij
Pages 126 – 127
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Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a Proven BBS1 Mutation
Paul S. Cannon;  Jill Clayton-Smith;  Philip L. Beales; I. Christopher Lloyd
Pages 128 – 132
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Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2
Elizabeth A. Grant;  Karmen M. Trzupek;  Jacob Reiss;  Kate Crow;  Ludwine Messiaen; Richard G. Weleber
Pages 133 – 138
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Mutation Reports
Mutation Analysis of the VMD2 Gene in Thai Families with Best Macular Dystrophy
La-ongsri Atchaneeyasakul;  Worapoj Jinda;  Natta Sakolsatayadorn;  Adisak Trinavarat;  Ngamkae Ruangvoravate;  Nualanong Thanasombatskul;  Wanna Thongnoppakhun; Chanin Limwongse
Pages 139 – 144
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PAX6 Analysis of Two Unrelated Families from the Arabian Peninsula with Classic Hereditary Aniridia
Arif O. Khan; Mohammad A. Aldahmesh
Pages 145 – 148
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