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Ophthalmic Genetics Volume 35 Issue 1

Subject Areas: Genetics (clinical); ;
Publisher: Taylor & Francis - Taylor & Francis
ISSN: 1744-5094
SJR: 41

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Journal Article

Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia

Lim, Sing-Hui; Germain, Elizabeth St.; Tran-Viet, Khanh-Nhat; Staffieri, Sandra; Marino, Meghan; Dollfus, Pr Hélène; Nading, Erica B.; Crowe, Sue; Gole, Glen; Perdomo-Trujillo, Yaumara; Haybittel, Michael; Elder, James; Pelletier, Valérie; Traboulsi, Elias; Mackey, David; Young, Terri L.

2014 Ophthalmic Genetics

doi:10.3109/13816810.2012.752017 pmid:23802135

AbstractBackground: The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in theATOH7 gene using...
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Journal Article

VKORC1 C1173T and VKORC1 G-1639A Gene Polymorphisms in Turkish Behçet’s Patients with Ocular and Non-ocular Involvement

Demir, Helin Deniz; Ortak, Hüseyin; Şahin, Şemsettin; Ateş, Ömer; Benli, İsmail; İnanır, Ahmet

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.763994 pmid:23362849

AbstractBackground: Behçet’s disease (BD) is a multisystemic vasculitis with unknown etiology. Vitamin K epoxide reductase complex subunit 1 (VKORC1) is the key enyzme in the formation of active vitamin K that is a cofactor of various coagulation factors. Polymorphisms of the VKORC1 may affect...
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Journal Article

Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration

Mantel, Irmela; Ambresin, Aude; Moetteli, Leila; Droz, Ivaine; Roduit, Raphaël; Munier, Francis L.; Schorderet, Daniel F.

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.766217 pmid:23373431

AbstractPurpose: Age-related macular degeneration (AMD) has been associated with a number of polymorphisms in genes in the complement pathway. We examined the potential genotype–phenotype correlation of complement factor B (CFB) (R32Q) polymorphisms in Caucasian patients with AMD.Methods: Data...
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Journal Article

Xq26.3 Microdeletion in a Male with Wildervanck Syndrome

Abu-Amero, Khaled K.; Kondkar, Altaf A.; Alorainy, Ibrahim A.; Khan, Arif O.; Al-Enazy, Leila A.; Oystreck, Darren T.; Bosley, Thomas M.

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.766218 pmid:23373430

Background: Wildervanck Syndrome (WS; cervico-oculo-acoustic syndrome) consists of Duane retraction syndrome (DRS), the Klippel-Feil anomaly, and congenital deafness. It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males. We...
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Journal Article

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene

Suto, Kimiko; Hosono, Katsuhiro; Takahashi, Masayo; Hirami, Yasuhiko; Arai, Yuki; Nagase, Yasunori; Ueno, Shinji; Terasaki, Hiroko; Minoshima, Shinsei; Kondo, Mineo; Hotta, Yoshihiro

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.768673 pmid:23421333

Background: To characterize the clinical phenotypes associated with previously-reported mutations of the eyes shut homolog (EYS) gene, including a truncating mutation, c.4957_4958insA, which is a major causative mutation for retinitis pigmentosa (RP) in Japan.Materials and Methods: The study...
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Journal Article

TBK1 and Flanking Genes in Human Retina

Fingert, John H.; Darbro, Benjamin W.; Qian, Qining; Van Rheeden, Richard; Miller, Kathy; Riker, Megan; Solivan-Timpe, Frances; Roos, Ben R.; Robin, Alan L.; Mullins, Robert F.

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.768674 pmid:23421332

AbstractPurpose: The gene that causes normal tension glaucoma (NTG) in a large pedigree was recently mapped to a region of chromosome 12q14 (GLC1P) that contains the genes TBK1, XPOT, RASSF3, and GNS. We sought to investigate the structure of the chromosome 12q14 duplication and explore the...
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Journal Article

The Protective Role of the −735C/T and the −1306C/T Polymorphisms of the MMP-2 Gene in the Development of Primary Open-angle Glaucoma

Kaminska, Anna; Banas-Lezanska, Patrycja; Przybylowska, Karolina; Gacek, Mira; Majsterek, Ireneusz; Szaflik, Jerzy; Szaflik, Jacek P.

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.800892 pmid:23725205

AbstractBackground: It has been suggested that the matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) are involved in the degradation of extracellular matrix components, resulting in ocular tissue damage. The −735C/T and −1306C/T polymorphisms recognized in the promoter region...
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Journal Article

The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography

Salvatore, Serena; Genead, Mohamed A.; Fishman, Gerald A.

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.804095 pmid:23758497

Background: To determine the prevalance of macular cysts in patients with clinical cone-rod dystrophy (CORD) using spectral-domain optical coherence tomography (SD-OCT). If macular cysts could be demonstrated in such patients, they might benefit from treatment with a carbonic anhydrase inhibitor...
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Journal Article

Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness

Huynh, Nancy; Jeffrey, Brett G.; Turriff, Amy; Sieving, Paul A.; Cukras, Catherine A.

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.865762 pmid:24397708

AbstractBackground: Inherited retinal diseases are uncommon, and the likelihood of having more than one hereditary disorder is rare. Here, we report a case of Stargardt disease and congenital stationary night blindness (CSNB) in the same patient, and the identification of two novel in-frame...
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Journal Article

Report of a Novel Mutation in CRB1 in a Lebanese Family Presenting Retinal Dystrophy

Jalkh, Nadine; Guissart, Claire; Chouery, Eliane; Yammine, Tony; Ali, Nagham El; Farah, Hanane Abi; Mégarbané, André

2014 Ophthalmic Genetics

doi:10.3109/13816810.2013.763995 pmid:23362850

AbstractPurpose: To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family.Materials and methods: Clinical data were recorded for five patients of the 14 family members. Genetic linkage was carried out using Affymetrix 250 K Nspl SNP array...

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Ophthalmic Genetics Volume 35 Issue 1

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