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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/28726569/founder-ashkenazi-jewish-mutations-of-large-deletion-in-the-inherited-retinal-dystrophy-genes
#1
John Pei-Wen Chiang, Hongyu Luo, Jie Duan, Josef Ekstein, Yoel Hirsch
No abstract text is available yet for this article.
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28726568/double-hyperautofluorescent-ring-on-fundus-autofluorescence-in-abca4
#2
Maria Fernanda Abalem, Cynthia X Qian, Kari Branham, Dana Schlegel, Abigail T Fahim, Naheed W Khan, John R Heckenlively, K Thiran Jayasundera
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence...
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28726533/ophthalmic-findings-in-patients-with-arterial-tortuosity-syndrome-and-carriers-a-case-series
#3
Joshua S Hardin, Yuri A Zarate, Bert Callewaert, Paul H Phillips, David B Warner
INTRODUCTION: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease hallmarked by tortuosity, stenosis, and aneurysm development of large- and medium-sized arteries. Mutations in SLC2A10, a gene that encodes the facilitative glucose transporter GLUT10, cause ATS. Several case reports have noted associated ophthalmic findings such as keratoconus, keratoglobus, and myopia without detailed descriptions or standardized examinations. We report the ophthalmic findings in a cohort of compound heterozygous ATS patients and heterozygous carriers of SLC2A10 mutations...
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704163/prevalence-of-macular-abnormalities-assessed-by-optical-coherence-tomography-in-patients-with-usher-syndrome
#4
Francesco Testa, Paolo Melillo, Settimio Rossi, Vincenzo Marcelli, Antonella de Benedictis, Raffaella Colucci, Beatrice Gallo, Raffaella Brunetti-Pierri, Simone Donati, Claudio Azzolini, Elio Marciano, Francesca Simonelli
BACKGROUND: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). MATERIAL AND METHODS: A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704127/retinal-mirnas-variations-in-a-large-cohort-of-inherited-retinal-disease
#5
Xiu-Feng Huang, Zhi-Qin Huang, Xiao-Long Fang, Zhen-Ji Chen, Wan Cheng, Zi-Bing Jin
BACKGROUND: Although great efforts have been paid on identification of genetic predisposition in the inherited retinal disease (IRD), genetic causes of a large proportion of patients remain a mystery. This dilemma makes us attempt to speculate that genetic components other than coding genes might be an additional pool predisposing IRD. In this study, we aim to perform a mutational screening in a large cohort of IRD patients with a particular focus on retina-specific or abundant microRNAs (miRs)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704110/challenges-of-managing-retinal-dystrophies-an-experience-from-south-india
#6
Rajani Battu, Ashwin Mallipatna, Niby Jacob Elackatt, Jan S A G Schouten, Carroll A B Webers
No abstract text is available yet for this article.
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704108/reliability-of-kinetic-visual-field-testing-in-children-with-mutation-proven-retinal-dystrophies-implications-for-therapeutic-clinical-trials
#7
Vaidehi S Dedania, Jerry Y Liu, Dana Schlegel, Chris A Andrews, Kari Branham, Naheed W Khan, David C Musch, John R Heckenlively, K Thiran Jayasundera
PURPOSE: Kinetic visual field testing is used to monitor disease course in retinal dystrophy clinical care and treatment response in treatment trials, which are increasingly recruiting children. This study investigates Goldmann visual field (GVF) changes in young children with mutation-proven retinal dystrophies as they age and with progression of the retinal degeneration. METHODS: Retrospective review of children ≤ 17 years old with a mutation-proven retinal dystrophy...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28569566/ocular-biometry-and-determinants-of-refractive-error-in-a-founder-population-of-european-ancestry
#8
Sarah M Hilkert, Reut Parness-Yossifon, Rebecca Mets-Halgrimson, Marilyn B Mets
BACKGROUND: The prevalence of myopia is increasing worldwide. Previous studies have found a positive association between myopia, education, and near activities, while others have noted a negative association with outdoor exposure. This study reports refractive error and biometry in a founder population of European ancestry, the Hutterites, and discusses risk factors contributing to myopia. METHODS: Cross-sectional study, including complete eye exams with retinoscopy and biometry...
June 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28557656/type-i-membranous-anomaly-in-stickler-syndrome
#9
Philip Alexander, Arabella Poulson, Annie McNinch, Allan Richards, Martin Snead
No abstract text is available yet for this article.
May 30, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28557591/cd36-gene-is-associated-with-intraocular-pressure-elevation-after-intravitreal-application-of-anti-vegf-agents-in-patients-with-age-related-macular-degeneration-implications-for-the-safety-of-the-therapy
#10
Veronika Matušková, Vladimir J Balcar, Naim A Khan, Ondřej Bonczek, Laura Ewerlingová, Tomáš Zeman, Petr Kolář, Daniela Vysloužilová, Eva Vlková, Omar Šerý
BACKGROUND: The wet form of age-related macular degeneration (AMD) is characterized by pathological vascularization of the outer retinal layers. The condition responds to treatment with antibodies against vascular endothelial growth factor (VEGF), but the patients receiving such anti-VEGF therapy sometimes show undesirable acute short-term increases in the intraocular pressure (IOP). The cause of this adverse effect is unknown, and here, we are testing a hypothesis that it is related to CD36 gene polymorphisms...
May 30, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28513254/peripapillary-sparing-in-rdh12-associated-leber-congenital-amaurosis
#11
Aakriti Garg, Winston Lee, Jesse D Sengillo, Rando Allikmets, Kartik Garg, Stephen H Tsang
BACKGROUND: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. RESULTS: Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients...
May 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#12
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28511019/a-novel-grk1-mutation-in-an-italian-patient-with-oguchi-disease
#13
Dario Pasquale Mucciolo, Andrea Sodi, Vittoria Murro, Ilaria Passerini, Simona Palchetti, Elisabetta Pelo, Gianni Virgili, Stanislao Rizzo
No abstract text is available yet for this article.
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28481155/a-unique-case-series-of-autosomal-recessive-bestrophinopathy-exhibiting-multigenerational-inheritance
#14
Joshua S Hardin, G Bradley Schaefer, Ahmed B Sallam, M Kathryn Williams, Sami Uwaydat
INTRODUCTION: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. It has a variable phenotype with white flecks in the retina, multifocal yellow subretinal deposits, macular edema, choroidal neovascularization, hyperopia, and electrophysiological abnormalities. We describe a family with ARB and multigenerational inheritance. METHODS: Three generations of a Middle Eastern family (a woman, one son, and two grandchildren) were evaluated by our ocular genetics team...
May 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28481129/novel-homozygous-mutation-in-the-spata7-gene-causes-autosomal-recessive-retinal-degeneration-in-a-consanguineous-german-family
#15
Britta Feldhaus, Susanne Kohl, Konstanze Hörtnagel, Nicole Weisschuh, Ditta Zobor
No abstract text is available yet for this article.
May 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28471317/a-de-novo-puf60-mutation-in-a-child-with-a-syndromic-form-of-coloboma-and-persistent-fetal-vasculature
#16
Claudio Graziano, Elena Gusson, Giulia Severi, Federica Isidori, Anita Wischmeijer, Milena Brugnara, Marco Seri, Cesare Rossi
No abstract text is available yet for this article.
May 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453375/genetic-factors-influencing-the-reduction-of-central-corneal-thickness-in-disorders-affecting-the-eye
#17
Joanna Swierkowska, Marzena Gajecka
BACKGROUND: The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia. MATERIALS AND METHODS: A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453371/megalocornea-associated-with-microduplications-on-chromosome-16
#18
P Samalia, A Buller
No abstract text is available yet for this article.
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453367/retinal-pigment-epithelium-photoreceptor-layer-alterations-in-a-patient-with-sturge-weber-syndrome-with-diffuse-choroidal-hemangioma
#19
Solmaz Abdolrahimzadeh, Francesco Parisi, Flavio Mantelli, Andrea Perdicchi, Gianluca Scuderi
PURPOSE: To describe an 8-year-old girl with diagnosis of Sturge-Weber syndrome (SWS) presenting with glaucoma, abnormal iris vessels, diffuse choroidal hemangioma, and small white dot-shaped "microdrusen-like" alterations of the retina in the right eye. PATIENT AND METHODS: Complete ophthalmological examination was performed with slit-lamp anterior segment assessment and fundus ophthalmoscopy. Near infrared reflectance (NIR) and enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) were carried out...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453362/a-novel-mutation-in-the-dominantly-inherited-topors-gene-supports-haploinsufficiency-as-the-mechanism-of-retinitis-pigmentosa
#20
Marta Latasiewicz, Anna Paola Salvetti, Robert E MacLaren
BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted...
April 28, 2017: Ophthalmic Genetics
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