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Ophthalmic Genetics, Volume 28 Issue 3 2007

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
Leber Congenital Amaurosis: Ciliary Proteins on the Move
Robert K. Koenekoop;  Frans P. M. Cremers; Anneke I. den Hollander
Pages 111 – 112
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Review Article
The Retinal Ciliopathies
N. A. Adams;  Ahmed Awadein; Hassanain S. Toma
Pages 113 – 125
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Rescue of Sight by Gene Therapy—Closer than It May Appear
Tonia S. Rex
Pages 127 – 133
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Research Report
Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram
Sureka Thiagalingam;  Terri L. McGee;  Richard G. Weleber;  Michael A. Sandberg;  Karmen M. Trzupek;  Eliot L. Berson; Thaddeus P. Dryja
Pages 135 – 142
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Qualitative Research Methodology in the Exploration of Patients' Perceptions of Participating in a Genetic Research Program
Frieda Basson;  Merle Joyce Futter; Jacquie Greenberg
Pages 143 – 149
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Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome
Elena Aller;  Teresa Jaijo;  Magdalena Beneyto;  Carmen Nájera;  Constantino Morera;  Herminio Pérez-Garrigues;  Carmen Ayuso; Jose Millán
Pages 151 – 155
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Abnormal Iris Processes May Be a Marker of Glaucoma Gene Carrier Status in Some Cases of Primary Infantile Glaucoma
Chandrakumar Balaratnasingam;  William H. Morgan;  John Nelson;  David A. Mackey;  David P. Dimasi; Geoffrey Lam
Pages 157 – 162
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Retinal Dysfunction in Carriers of Bardet-Biedl Syndrome
Linda S. Kim;  Gerald A. Fishman;  William H. Seiple;  Janet P. Szlyk; Edwin M. Stone
Pages 163 – 168
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Case Report
An Unusual Presentation of Macular Corneal Dystrophy Associated with Uniparental Isodisomy and a Novel Leu173Pro Mutation
Vivek S. Yellore;  Baris Sonmez;  Michael C. Chen;  Sylvia A. Rayner;  Eugene J. Thonar; Anthony J. Aldave
Pages 169 – 174
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Lens Opacities in Bloom Syndrome: Case Report and Review of the Literature
Kivanc Cefle;  Sukru Ozturk;  Nilufer Gozum;  Nilgun Duman;  Ferhan Mantar;  Kerim Guler; Sukru Palanduz
Pages 175 – 178
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Short Communication
PAX6 Mutations May Be Associated with High Myopia
Alex W. Hewitt;  Lisa S. Kearns;  Robyn V. Jamieson;  Kathy A. Williamson;  Veronica van Heyningen; David A. Mackey
Pages 179 – 182
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Optic Nerve Dysfunction in a Child Following Low-Dose Maternal Warfarin Exposure
Arif O. Khan
Pages 183 – 184
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Current Literature
Choroideremia is Caused by a Defective Phagocytosis by the RPE of Photoreceptor Disc Membranes, not by an Intrinsic Photoreceptor Defect
Robert K. Koenekoop
Pages 185 – 186
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