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Ophthalmic Genetics, Volume 27 Issue 1 2006

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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Research Report
The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature
Garfield L. Miller;  Sohel Somani;  Malgorzata J. M. Nowaczyk;  Annette Feigenbaum;  Ronald G. Davidson;  Teresa Costa; Alex V. Levin
Pages 1 – 7
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The Natural History of Retinal Degeneration in Association with Cobalamin C (cbl C) Disease
Andrew M. Schimel; Marilyn Baird Mets
Pages 9 – 14
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Mutation Report
A G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis
H. Abouzeid;  Y. Li;  I. H. Maumenee;  S. Dharmaraj; O. Sundin
Pages 15 – 20
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Novel and De-novo Truncating PAX6 Mutations and Ocular Phenotypes in Thai Aniridia Patients
La-ongsri Atchaneeyasakul;  Adisak Trinavarat;  Dhaivadee Dulayajinda;  Kornphet Kumpornsin;  Wanna Thongnoppakhun;  Pa-thai Yenchitsomanus; Chanin Limwongse
Pages 21 – 27
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Case Report
A Report of Paracentric Inversion of Chromosome 8 in Moebius Syndrome
James P. Kersey;  Anthony J. Vivian; Evan Reid
Pages 29 – 31
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Letter to the Editor
Letter to the Editor: Atrophic Chorioretinal Scar and Focal Scleral Bowing Following Thermochemotherapy with a Diode Laser for Retinoblastoma
Pim de Graaf;  Jonas A. Castelijns;  Annette C. Moll;  Saskia M. Imhof; Antoinette Y. N. Schouten-van Meeteren
Pages 33 – 35
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Abstract
Photoreceptor Gene RPGRIP1 Replacement Rescues Blind Mice
Robert K. Koenekoop
Page 37
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JNK Pathway Implicated in Retinitis Pigmentosa
Robert K. Koenekoop
Pages 37 – 38
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