Ophthalmic Genetics, Volume 28, Issue 3 (2007)

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Ophthalmic Genetics, Volume 28, Issue 3 (2007)

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Editorial

Editorial
Leber Congenital Amaurosis: Ciliary Proteins on the Move
Robert K. Koenekoop, Frans P. M. Cremers & Anneke I. den Hollander
Pages: 111-112
Published online: 08 Jul 2009
CitationforLeber Congenital Amaurosis: Ciliary Proteins on the Move | Full Text | References | PDF (46.8 KB)
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Free Access

Review Article

Review Article
The Retinal Ciliopathies
N. A. Adams, Ahmed Awadein & Hassanain S. Toma
Pages: 113-125
Published online: 08 Jul 2009
AbstractforThe Retinal Ciliopathies | Full Text | References | PDF (1,008.9 KB)
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Review Article
Rescue of Sight by Gene Therapy—Closer than It May Appear
Tonia S. Rex
Pages: 127-133
Published online: 08 Jul 2009
AbstractforRescue of Sight by Gene Therapy—Closer than It May Appear | Full Text | References | PDF (83.3 KB)
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Research Report

Article
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
Published online: 08 Jul 2009
AbstractforNovel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram | Full Text | References | PDF (4.3 MB)
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Article
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
Published online: 08 Jul 2009
AbstractforQualitative Research Methodology in the Exploration of Patients' Perceptions of Participating in a Genetic Research Program | Full Text | References | PDF (101.4 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforScreening 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 | Full Text | References | PDF (195.7 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforAbnormal Iris Processes May Be a Marker of Glaucoma Gene Carrier Status in Some Cases of Primary Infantile Glaucoma | Full Text | References | PDF (579.6 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforRetinal Dysfunction in Carriers of Bardet-Biedl Syndrome | Full Text | References | PDF (391.2 KB)
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Case Report

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
Published online: 08 Jul 2009
AbstractforAn Unusual Presentation of Macular Corneal Dystrophy Associated with Uniparental Isodisomy and a Novel Leu173Pro Mutation | Full Text | References | PDF (1.2 MB)
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Case Report
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
Published online: 08 Jul 2009
AbstractforLens Opacities in Bloom Syndrome: Case Report and Review of the Literature | Full Text | References | PDF (464.7 KB)
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Short Communication

Article
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
Published online: 08 Jul 2009
AbstractforPAX6 Mutations May Be Associated with High Myopia | Full Text | References | PDF (62.1 KB)
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Article
Optic Nerve Dysfunction in a Child Following Low-Dose Maternal Warfarin Exposure
Arif O. Khan
Pages: 183-184
Published online: 08 Jul 2009
AbstractforOptic Nerve Dysfunction in a Child Following Low-Dose Maternal Warfarin Exposure | Full Text | References | PDF (257.7 KB)
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Current Literature

Article
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
Published online: 08 Jul 2009
CitationforChoroideremia is Caused by a Defective Phagocytosis by the RPE of Photoreceptor Disc Membranes, not by an Intrinsic Photoreceptor Defect | Full Text | References | PDF (40.4 KB)
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