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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/28323501/microarray-based-analysis-of-gene-expression-profiles-in-peripheral-blood-of-patients-with-acute-primary-angle-closure
#1
Jin Wook Jeoung, Jung Hwa Ko, Yu Jeong Kim, Yong Woo Kim, Ki Ho Park, Joo Youn Oh
BACKGROUND: We investigated the expression of molecules in peripheral blood mononuclear cells (PBMCs) and plasma of patients with acute primary angle closure (APAC). MATERIALS AND METHODS: Peripheral blood was collected from patients with APAC (n = 10) and age-matched controls (n = 5). The gene transcription profile was analyzed in PBMCs using microarrays and validated by real-time reverse transcription polymerase chain reaction (RT-PCR). The levels of secreted proteins were evaluated in plasma by ELISA...
March 21, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28306364/white-orbital-mass-after-enucleation-for-retinoblastoma-the-power-of-illusion
#2
Sameh E Soliman, William Halliday, Furqan Shaikh, Helen Chan, Elise Hèon, Brenda L Gallie
No abstract text is available yet for this article.
March 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28145787/osteoporosis-pseudoglioma-syndrome-report-of-two-cases-and-a-manifesting-carrier
#3
Paolo Maltese, Lucia Ziccardi, Giancarlo Iarossi, Elena Gusson, Leonardo D'Agruma, Giorgio Marchini, Luca Buzzonetti, Annalisa Nicoletti, Sabrina Benedetti, Matteo Bertelli
BACKGROUND: Osteoporosis-pseudoglioma syndrome is a very rare disease mainly characterized by severe eye abnormalities and osteoporosis but also causing a broader range of clinical features. The syndrome is associated with homozygous or compound heterozygous variations in the LRP5 gene. In this report, we describe two children with a severe early-onset form of familial exudative vitreoretinopathy associated with skeletal abnormalities. MATERIALS AND METHODS: Two probands (4 and 7 years of age respectively) and their parents were assessed by genetic analysis and comprehensive ophthalmic examination...
February 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28145780/cilioretinal-artery-vasculogenesis-might-be-promoted-by-plasminogen-activator-inhibitor-1-5g-allele
#4
Sarenur Yilmaz, Aylin Ardagil, Ibrahim Akalin, Meltem Guzin Altinel, Yasar Dag, Esra Kurum, Efe Koyun, Sevil Ari Yaylali, Huseyin Bayramlar
BACKGROUND: Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryonic life. METHODS: We assessed plasminogen activator inhibitor-1 (PAI-1) 4G/5G, methylenetetrahydrofolatereductase (MTHFR), FACTOR V LEIDEN and PROTHROMBIN gene polymorphisms on 130 patients [82/48 females/males; Median age: 57 (18-84) with visible CAs and 100 (64/36: female/male; Median age: 55 (19-90)] without visible CAs...
February 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28140742/cystoid-macular-changes-on-optical-coherence-tomography-in-a-patient-with-maternally-inherited-diabetes-and-deafness-midd-associated-macular-dystrophy
#5
Cynthia X Qian, Kari Branham, Naheed Khan, Steven K Lundy, John R Heckenlively, Thiran Jayasundera
The clinical presentation and optical coherence tomography findings in a patient with maternally inherited diabetes and deafness (MIDD) are presented to highlight the presence of macular cystoid spaces in some patients with this disease. Typically, patients with MIDD demonstrate progression of a pigmentary maculopathy into areas of geographic macular atrophy. At the time of initial visit, the 30-year-old patient had large macular cystoid changes in addition to retinal pigmentary changes in both eyes. The cystoid changes responded to treatment with systemic immunosuppression and a topical carbonic anhydrase inhibitor (CAI), recurred when treated with topical CAI monotherapy, and finally resolved after an intravitreal triamcinolone acetonide injection...
January 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28139165/leber-hereditary-optic-neuropathy-due-to-a-new-nd1-mutation
#6
Patrick Soldath, Marianne Wegener, Birgit Sander, Thomas Rosenberg, Morten Duno, Flemming Wibrand, John Vissing
We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease...
January 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28135889/association-of-igf1-polymorphism-rs6214-with-high-myopia-a-systematic-review-and-meta-analysis
#7
Dingding Zhang, Guangqun Zeng, Jinliang Hu, Kerry McCormick, Yi Shi, Bo Gong
PURPOSE: To conduct a comprehensive evaluation of the association of Insulin-like growth factor 1 (IGF1) polymorphism rs6214 with high myopia through a systematic review and meta-analysis of candidate genetic association study. METHODS: All case-control association studies on IGF1 and high myopia reported up to 15 June 2016 in PubMed, Embase, Web of Science, and the Chinese Biomedical Database were retrieved. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for single-nucleotide polymorphism (SNP) using fixed and random effects models according to between study heterogeneity...
January 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28129017/retinal-capillaritis-in-a-crb1-associated-retinal-dystrophy
#8
Vittoria Murro, Dario Pasquale Mucciolo, Andrea Sodi, Lorenzo Vannozzi, Cinzia De Libero, Gabriele Simonini, Stanislao Rizzo
PURPOSE: To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME). METHODS: A case report. RESULTS: An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations. CONCLUSIONS: Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient...
January 27, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28129013/oxidative-dna-damage-and-reduced-expression-of-dna-repair-genes-role-in-primary-open-angle-glaucoma-poag
#9
Kuldeep Mohanty, Rima Dada, Tanuj Dada
BACKGROUND: Controversy exists regarding the role of oxidative DNA damage and DNA repair in primary open angle glaucoma (POAG). We performed a case control study to test the hypothesis that oxidative DNA damage and base excision repair (BER) genes PARP1 and OGG1 are involved in POAG pathogenesis. MATERIALS AND METHODS: The study included 116 POAG patients and 116 cataract patients as controls. The 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels were measured by ELISA...
January 27, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28121235/genetic-analysis-of-sox2-and-vsx2-genes-in-27-egyptian-families-with-anophthalmia-and-microphthalmia
#10
Tamer H A Ammar, Somaia Ismail, Ossama Abd Al-Motaal Mansour, Mostafa M El-Shafey, Ahmed S Doghish, Ahmad M Kamal, Ghada M H Abdel-Salam
No abstract text is available yet for this article.
January 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28121212/macular-hole-in-stargardt-disease-clinical-and-ultra-structural-observation
#11
Stanislao Rizzo, Dario Pasquale Mucciolo, Daniela Bacherini, Vittoria Murro, Lorenzo Vannozzi, Gianni Virgili, Daniele Bani, Andrea Sodi
PURPOSE: To report for the first time a case report of a Stargardt disease patient who developed a macular hole (MH) which was treated with a surgical approach. METHOD: Case report. RESULTS: After vitrectomy a complete closure of the MH was obtained and the best-corrected visual acuity remained stable. No complications were reported after one year of follow-up. An ultra-structural examination of the removed internal limiting membrane (ILM) and epiretinal membrane (ERM) was carried out under electron microscopy...
January 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28121209/combined-treatment-with-intravitreal-bevacizumab-and-laser-photocoagulation-for-exudative-maculopathy-in-facioscapulohumeral-muscular-dystrophy
#12
Rita Matos, João Beato, Marta Silva, Sérgio Silva, Elisete Brandão, Fernando Falcão-Reis, Susana Penas
PURPOSE: To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management. METHODS: Observational case report. RESULTS: A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation...
January 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28112979/ocular-manifestations-in-the-x-linked-intellectual-disability-syndromes
#13
Natario L Couser, Maheer M Masood, Arthur S Aylsworth, Roger E Stevenson
Intellectual disability (ID), a common neurodevelopmental disorder characterized by limitations of both intellectual functioning and adaptive behavior, affects an estimated 1-2% of children. Genetic causes of ID are often accompanied by recognizable syndromal patterns. The vision apparatus is a sensory extension of the brain, and individuals with intellectual disabilities frequently have coexisting abnormalities of ocular structures and the visual pathway system. About one-third of the X-linked intellectual disability (XLID) syndromes have significant eye or ocular adnexa abnormalities that provide important diagnostic clues...
January 23, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28112973/spectral-domain-optical-coherence-tomography-findings-in-alstr%C3%A3-m-syndrome
#14
Gad Dotan, Vikas Khetan, Jan D Marshall, Elizabeth Affel, Denise Armiger-George, Jürgen K Naggert, Gayle B Collin, Alex V Levin
BACKGROUND: Alström syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. The aim of this study was to characterize morphological retinal changes in Alström patients using spectral-domain optical coherence tomography. METHODS: We studied volunteer patients attending the conference of Alström Syndrome International, a support group for affected families, using hand-held spectral-domain optical coherence tomography (SD-OCT) in an office setting...
January 23, 2017: Ophthalmic Genetics
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
#15
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/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
#16
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
#17
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
#18
(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
#19
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/28095096/corrigendum
#20
(no author information available yet)
No abstract text is available yet for this article.
January 17, 2017: Ophthalmic Genetics
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