Ophthalmic Genetics, Volume 28, Issue 2 (2007)

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Ophthalmic Genetics, Volume 28, Issue 2 (2007)

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Articles

Article
Methylenetetrahydrofolate Reductase Genetic Polymorphisms in Patients with Primary Open-Angle Glaucoma
Madeleine Zetterberg, Gunnar Tasa, Mona Seibt Palmér, Erkki Juronen, Egle Toover, Kaj Blennow & Henrik Zetterberg
Pages: 47-50
Published online: 08 Jul 2009
AbstractforMethylenetetrahydrofolate Reductase Genetic Polymorphisms in Patients with Primary Open-Angle Glaucoma | Full Text | References | PDF (65.4 KB)
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Article
Did Edgar Degas Have an Inherited Retinal Degeneration?
Zeynel A. Karcioglu
Pages: 51-55
Published online: 08 Jul 2009
AbstractforDid Edgar Degas Have an Inherited Retinal Degeneration? | Full Text | References | PDF (813.9 KB)
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Article
Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2
Anthony J. Aldave, Baris Sonmez, Nirit Bourla, Gerald Schultz, Jeanette C. Papp, Andrew K. Salem, Sylvia A. Rayner & Vivek S. Yellore
Pages: 57-67
Published online: 08 Jul 2009
AbstractforAutosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2 | Full Text | References | PDF (2.3 MB)
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Original

Article
Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma Associated with 9p Deletion Syndrome
Konal Saha, Ian Christopher Lloyd, Isabelle Mary Russell-Eggitt & David Samuel Irving Taylor
Pages: 69-72
Published online: 08 Jul 2009
AbstractforChromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma Associated with 9p Deletion Syndrome | Full Text | References | PDF (2.2 MB)
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Article
A Rare Transthyretin Mutation (Asp18Glu) Associated with Vitreous Amyloid
Joel M. Solano, Jose S. Pulido & Diva R. Salomao
Pages: 73-75
Published online: 08 Jul 2009
AbstractforA Rare Transthyretin Mutation (Asp18Glu) Associated with Vitreous Amyloid | Full Text | References | PDF (504.2 KB)
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RESEARCH ARTICLE

Article
Intron 4 VNTR of Endothelial Nitric Oxide Synthase (eNOS) Gene and Diabetic Retinopathy in Type 2 Patients in Southern India
Satagopan Uthra, Rajiv Raman, Bickol N. Mukesh, Padmaja Kumari R, Pradeep G. Paul, Praveena Lakshmipathy, Perumal Gnanamoorthy, Tarun Sharma, Catherine A. McCarty & Govindasamy Kumaramanickavel
Pages: 77-81
Published online: 08 Jul 2009
AbstractforIntron 4 VNTR of Endothelial Nitric Oxide Synthase (eNOS) Gene and Diabetic Retinopathy in Type 2 Patients in Southern India | Full Text | References | PDF (63.6 KB)
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CASE REPORT

Article
Unilateral Ocular Duplication
Hanne Jensen, Søren Anker Pedersen, Ove A. Jensen, Margrethe Herning & Mette Warburg
Pages: 83-88
Published online: 08 Jul 2009
AbstractforUnilateral Ocular Duplication | Full Text | References | PDF (2.4 MB)
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Article
Gillespie Syndrome: Additional Findings and Parental Consanguinity
Daniela Varela Luquetti, Ruy Pires Oliveira-Sobrinho & Vera Lúcia Gil-da-Silva-Lopes
Pages: 89-93
Published online: 08 Jul 2009
AbstractforGillespie Syndrome: Additional Findings and Parental Consanguinity | Full Text | References | PDF (3.5 MB)
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Article
Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos?
Hassanain S. Toma, Perciliz L. Tan, Victor A. McKusick, Nicholas Katsanis & N. A. Adams
Pages: 95-99
Published online: 08 Jul 2009
AbstractforBardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos? | Full Text | References | PDF (461.6 KB)
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Article
Vision Impairment with an Interstitial Deletion of the Short Arm of Chromosome 8
Rosalind M. K. Stewart, David C. Assheton, Richard P. Hagan & Arvind Chandna
Pages: 101-104
Published online: 08 Jul 2009
AbstractforVision Impairment with an Interstitial Deletion of the Short Arm of Chromosome 8 | Full Text | References | PDF (1.1 MB)
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Article
Ocular Anomalies Associated with Interstitial Deletion of Chromosome 2q31: Case Report and Review
Joël Gambrelle, Marianne Till, Bibi Lukusa, Francis Beby, Nathalie Mory, Léon Sann, Laurent Kodjikian, Jean Daniel Grange & Guy Putet
Pages: 105-109
Published online: 08 Jul 2009
AbstractforOcular Anomalies Associated with Interstitial Deletion of Chromosome 2q31: Case Report and Review | Full Text | References | PDF (1.2 MB)
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