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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/28394650/diagnosed-cataracts-in-patients-with-cystic-fibrosis-in-a-united-states-administrative-database
#1
Nicholas J Everage, Yan Bai, Brett Loop, Nataliya Volkova, Nan Liu, Cheryl Enger
BACKGROUND: We estimated the incidence and prevalence of diagnosed cataracts among patients with cystic fibrosis (CF) versus the general population (GP). METHODS: Using a large US health insurance claims database, we identified a CF cohort and a GP cohort matched with respect to age, gender, and calendar year. The prevalence and incidence of diagnosed cataract (primary outcome) for both cohorts were calculated, as well as the incidence rate ratios (IRRs). RESULTS: The prevalence of diagnosed cataracts among patients with CF alive and enrolled in the health plan on August 31, 2012 was 4...
April 10, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28394649/adamtsl4-assessment-in-ectopia-lentis-reveals-a-recurrent-founder-mutation-in-polynesians
#2
Katherine A van Bysterveldt, Rasha Al Taie, Will Ikink, Verity F Oliver, Andrea L Vincent
BACKGROUND: To clinically characterize a cohort of patients with ectopia lentis (EL), or Marfanoid features in whom a definite genetic diagnosis of Marfan syndrome (MFS) had been excluded (atypical MFS), and to evaluate the contribution of mutations in ADAMTSL4 (OMIM * 610113), and P3H2 (LEPREL1; OMIM * 610341) to disease in this population. MATERIALS AND METHODS: Subjects underwent comprehensive ophthalmic examination, including keratometry. Mutational analysis of ADAMTSL4 and P3H2 was undertaken using PCR, high resolution melting analysis, and sequencing...
April 10, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28388263/reversal-of-cystoid-macular-edema-in-gyrate-atrophy-patients
#3
Dan Heller, Chen Weiner, Iris Nasie, Yair Anikster, Yuval Landau, Tal Koren, Russell Pokroy, Adi Abulafia, Eran Pras
PURPOSE: This study reports the presentation of two families with gyrate atrophy (GA). The aim of this study was to characterize the potential effect of therapeutic regimens on macular edema. METHODS: Two unrelated patients with GA were studied for the potential effect of low protein diet (≤ 0.8 g/kg/d), and oral administration of pyridoxine (500 mg/day), on serum ornithine levels, best corrected visual acuity (BCVA), slit-lamp, OCT, and auto-fluorescence findings...
April 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28388261/a-novel-likely-pathogenic-variant-in-the-rab28-gene-in-a-korean-patient-with-cone-rod-dystrophy
#4
Ga-In Lee, Chung Lee, Sam Subramanian, Nayoung K D Kim, Chang-Seok Ki, Woong-Yang Park, Byoung Joon Kim, Sang Jin Kim
No abstract text is available yet for this article.
April 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28388256/intrafamilial-variability-in-syndromic-microphthalmia-type-5-caused-by-a-novel-variation-in-otx2
#5
Puneeth H Somashekar, Anju Shukla, Katta M Girisha
BACKGROUND: Anophthalmia/microphthalmia/coloboma (MAC) spectrum encompasses the most severe malformations of the eye. Together, they have an incidence of 2 in 10,000 births and can be unilateral or bilateral. These disorders are genetically heterogeneous. MATERIALS AND METHODS: We ascertained a large three-generation family with multiple members showing variable phenotypes of syndromic microphthalmia. Exome sequencing was performed for the proband and his affected maternal aunt...
April 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28323501/microarray-based-analysis-of-gene-expression-profiles-in-peripheral-blood-of-patients-with-acute-primary-angle-closure
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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/27484007/corrigendum
#18
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27268268/retinal-features-in-mulvihill-smith-syndrome
#19
Pallavi Tyagi, Zain Juma, Aravind R Reddy
BACKGROUND: Mulvihill-Smith syndrome is a rare progeroid syndrome of sporadic nature. Previously reported ophthalmological findings include astigmatism, myopia, endothelial dystrophy, keratoconus, cataract, band keratopathy, meibomian gland dysfunction, dry eye disease, amblyopia, and allergic conjunctivitis. MATERIALS AND METHODS: The proband, a 25-year-old male subject diagnosed with Mulvihill-Smith syndrome in childhood developed retinal changes with onset of adulthood...
March 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27268095/cyp1b1-mutational-screening-in-a-portuguese-cohort-of-primary-congenital-glaucoma-patients
#20
M J Simões, S Carmona, R Roberts, G Wainwright, C Faro, E Silva, C Egas
No abstract text is available yet for this article.
March 2017: Ophthalmic Genetics
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