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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/28107085/registry-of-ocular-anomalies-among-patients-with-genetic-disorders-attending-the-clinical-genetics-department-at-the-national-research-centre-in-egypt
#1
Ola M Eid, Sawsan Abdel Hady, Ahmed El-Kotoury, Khalda A Said, Karima Rafat, Hala T El-Bassyouni
BACKGROUND: The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is very important. The aim of this study is to evaluate the frequency and types of congenital ocular anomalies among patients with genetic disorders. PATIENTS AND METHODS: This is a retrospective study that was conducted in the National Research Center, Egypt at the Clinical Genetics Department over a 4-year period...
January 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095140/prom1-gene-variations-in-brazilian-patients-with-macular-dystrophy
#2
Mariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patricia Varela Lima Teixeira, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Martin, João Bosco Pesquero, Juliana Maria Ferraz Sallum
BACKGROUND: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. MATERIAL AND METHODS: This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095138/leber-congenital-amaurosis-from-darkness-to-light-an-ode-to-irene-maumenee
#3
Razek Georges Coussa, Irma Lopez Solache, Robert K Koenekoop
This article is dedicated to Irene Hussels-Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994-1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly uncharacterized form of congenital retinal blindness to one in which a large number of causative genes and disease pathways are known, and the world's first human retinal disease to be treated by gene therapy. Dr. Maumenee's insights, efforts, and leadership have contributed significantly to this remarkable scientific journey...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095127/association-of-the-dna-repair-smug1-rs3087404-polymorphism-and-its-interaction-with-high-sensitivity-c-reactive-protein-for-age-related-macular-degeneration-in-iranian-patients
#4
Mortaza Bonyadi, Faride Mehdizadeh, Mohammad Hossein Jabbarpoor Bonyadi, Masoud Soheilian, Alireza Javadzadeh, Mehdi Yaseri
BACKGROUND: Age-related macular degeneration (AMD) is a complex disease and recently the role of DNA repairing genes in its susceptibility has been studied. It has been hypothesized that polymorphism in DNA repair system genes reduce the capacity to repair DNA damages which may lead to a greater susceptibility to AMD. C-reactive protein (CRP) production is shown to enhance inflammatory processes by increasing oxidative stress and inducing DNA damage. We planned to evaluate the possible association of SMUG1 variants and their possible interaction with high sensitivity CRP levels in AMD...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095122/exome-sequencing-confirms-znf408-mutations-as-a-cause-of-familial-retinitis-pigmentosa
#5
Imen Habibi, Ahmed Chebil, Fedra Kort, Daniel F Schorderet, Leila El Matri
No abstract text is available yet for this article.
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095103/corrigendum
#6
(no author information available yet)
No abstract text is available yet for this article.
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095100/association-of-combined-cigarette-smoking-and-arms2-loc387715-a69s-polymorphisms-with-age-related-macular-degeneration-a-meta-analysis
#7
Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Mortaza Bonyadi, Masoud Soheilian, Homayoun Nikkhah
PURPOSE: The age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined ARMS2/LOC387715 genotypes and cigarette smoking with AMD to estimate the possible synergistic or multiplicative effects. METHODS: Heterogeneity of studies was evaluated using the Cochran Q-test and the I-square index...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095098/reduced-penetrance-in-a-large-caucasian-pedigree-with-stickler-syndrome
#8
Stuart W Tompson, Charles Johnson, Diana Abbott, Benjamin Bakall, Vincent Soler, Tammy L Yanovitch, Kristina N Whisenhunt, Thomas Klemm, Steve Rozen, Edwin M Stone, Max Johnson, Terri L Young
BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to identify the causal variant. MATERIALS AND METHODS: Genomic DNA samples collected from 40 family members were analyzed. A whole-genome linkage scan was performed using Illumina HumanLinkage-24 BeadChip followed by two-point and multipoint linkage analyses using FASTLINK and MERLIN...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095096/corrigendum
#9
(no author information available yet)
No abstract text is available yet for this article.
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095095/joint-association-of-complement-component-3-and-cc-cytokine-ligand2-ccl2-or-complement-component-3-and-cfh-polymorphisms-in-age-related-macular-degeneration
#10
Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Tahereh Mohammadian, Nikou Fotouhi, Alireza Javadzadeh, Masoud Soheilian
BACKGROUND: To determine the joint effect of complement component 3(C3 R102G) with CC-cytokine ligand2 (CCL2-2518) or complement factor H (CFH) Y402H polymorphisms on advanced age-related macular degeneration (AMD). METHODS: In this case-control study, 233 patients with advanced AMD and 159 unrelated healthy controls enrolled for evaluation. Selected polymorphisms were determined by polymerase chain reaction and restriction fragment length polymorphism. RESULTS: A combination of AA CCL2 (rs1024611) and GG C3 (R102G) genotypes resulted in a super-additivity of the risks: OR = 10...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095092/ophthalmic-artery-chemosurgery-for-eyes-with-advanced-retinoblastoma
#11
David H Abramson, Armida W M Fabius, Jasmine H Francis, Brian P Marr, Ira J Dunkel, Scott E Brodie, Anna Escuder, Y Pierre Gobin
BACKGROUND: Surgical removal of one or both eyes has been the most common way to treat children with retinoblastoma worldwide for more than 100 years. Ophthalmic artery chemosurgery (OAC) was introduced 10 years ago and it has been used as an alternative to enucleation for eyes with advanced retinoblastoma. The purpose of this report is to analyze our 9-year experience treating advanced retinoblastoma eyes with OAC. MATERIALS AND METHODS: Single-arm retrospective study from a single center of 226 eyes with eyes of retinoblastoma patients with advanced intraocular disease defined as both Reese-Ellsworth (RE) "Va" or "Vb" and International Classification Retinoblastoma (ICRb) group "D" or "E" (COG Classification)...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095090/associations-between-rs4244285-and-rs762551-gene-polymorphisms-and-age-related-macular-degeneration
#12
Neringa Stasiukonyte, Rasa Liutkeviciene, Alvita Vilkeviciute, Mantas Banevicius, Loresa Kriauciuniene
BACKGROUND: Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of drusen containing about 40% of lipids, there have been attempts to find associations between age-related macular degeneration and genes controlling lipid metabolism. PURPOSE: To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095089/comparative-data-on-sd-oct-for-a-retinal-nerve-fiber-layer-and-retinal-macular-thickness-in-a-large-cohort-with-marfan-syndrome
#13
WanWan Xu, Sudhi P Kurup, Amani A Fawzi, Mary K Durbin, Irene H Maumenee, Marilyn B Mets
PURPOSE: To report the distribution of macular and optic nerve topography in the eyes of individuals with Marfan syndrome aged 8-56 years using spectral domain optical coherence tomography (SD-OCT). METHODS: Thirty-three patients with Marfan syndrome underwent a full eye examination including slit-lamp biomicroscopy, indirect ophthalmoscopy, and axial length measurement; and SD-OCT measurements of the retinal nerve fiber layer (RNFL) and macular thickness. RESULTS: For patients between the ages of 8 and 12 years, the average RNFL thickness is 98 ± 9 μm, the vertical cup to disc (C:D) ratio is 0...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#14
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095071/mevalonate-kinase-deficiency-associated-with-ataxia-and-retinitis-pigmentosa-in-two-brothers-with-mvk-gene-mutations
#15
Ulrich Kellner, Heidi Stöhr, Silke Weinitz, Ghazaleh Farmand, Bernhard H F Weber
PURPOSE: To report the clinical and molecular genetic findings in two brothers with retinitis pigmentosa (RP) and mevalonate kinase deficiency (MKD). METHODS: The brothers were examined clinically and with fundus autofluorescence, near-infrared autofluorescence, and spectral domain optical coherence tomography. Targeted resequencing was done with a custom designed gene panel containing 78 genes associated with RP. Mutations were confirmed by direct Sanger sequencing...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28085539/mutations-in-dzip1-and-xylt1-are-associated-with-nonsyndromic-early-onset-high-myopia-in-the-korean-population
#16
Jong-Keuk Lee, Hyuna Kim, Young-Mi Park, Dae Hee Kim, Hyun Taek Lim
No abstract text is available yet for this article.
January 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28085531/reconciling-genotype-with-phenotype-lessons-learned-on-the-arabian-peninsula
#17
Arif O Khan
On the Arabian Peninsula, where consanguineous/endogamous marriages are customary, hereditary eye disease is often autosomal recessive and genotype-phenotype correlation is typically straightforward. However, this is not always the case. Lessons I have learned in the course of reconciling genotype with phenotype in the region include the following: (1) although autosomal recessive disease is common, autosomal dominant disease still occurs; (2) an individual or family can be affected by more than one genetic eye disease; and (3) phenotype trumps genotype...
January 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28085527/a-multidisciplinary-approach-to-improving-the-care-and-outcomes-of-patients-with-retinoblastoma-at-a-pediatric-cancer-hospital-in-egypt
#18
Hossam Elzomor, Hala Taha, Radwa Nour, Adel Aleieldin, M Saad Zaghloul, Ibrahim Qaddoumi, Ahmad S Alfaar
BACKGROUND: Retinoblastoma poses a substantial burden in developing countries. We conducted this study to assess the effect of implementing a multidisciplinary approach and standardized protocols for treating pediatric patients with retinoblastoma at the Children's Cancer Hospital Egypt (CCHE). MATERIALS AND METHODS: In January 2011, the CCHE implemented standardized protocols for the diagnosis, treatment, and reporting of retinoblastoma cases. The hospital also introduced a new retinoblastoma management algorithm and data analysis system...
January 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28085526/prothrombin-polymorphism-a19911g-factor-v-hr2-haplotype-a4070g-and-plasminogen-activator-inhibitor-1-polymorphism-4g-5g-and-the-risk-of-retinal-vein-occlusion
#19
Claudia Kuhli-Hattenbach, Peter Hellstern, Dorit Karin Nägler, Thomas Kohnen, Lars-Olof Hattenbach
BACKGROUND: Thus far, no data has become available to evaluate systematically the prevalences of prothrombin polymorphism A19911G (PT A19911G), factor V HR2 haplotype A4070G (FV A4070G), or plasminogen activator-inhibitor-1 polymorphism 4G/5G (PAI-1 4G/5G) in patients who develop retinal vein occlusion (RVO) without cardiovascular risk factors. MATERIALS AND METHODS: We retrospectively evaluated comprehensive thrombophilia data from 42 preselected RVO patients without cardiovascular risk factors...
January 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28085524/evaluation-of-genome-wide-susceptibility-loci-for-high-myopia-in-a-han-chinese-population
#20
Fang Li, Zimeng Ye, Yaru Zhai, Bo Gong, Lingxi Jiang, Haiyan Wu, Ying Lin, Ling Wan, Zhenglin Yang, Yi Shi, Zhengzheng Wu
PURPOSE: High myopia (HM) is a common cause of visual impairment worldwide. Previous genome-wide association studies have reported that seven single nucleotide polymorphisms (SNPs), including rs1254319, rs3138144, rs12205363, rs17648524, rs7829127, rs1656404, and rs7084402, are associated with HM in Caucasians. The aim of this study was to investigate the association of these SNPs in Han Chinese. METHODS: SNPs were genotyped by SNaPshot method in a Chinese cohort composed of 830 HM patients and 1140 controls...
January 13, 2017: Ophthalmic Genetics
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