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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/30444160/clinical-and-imaging-characteristics-of-posterior-column-ataxia-with-retinitis-pigmentosa-with-a-specific-flvcr1-mutation
#1
Jennifer Lee, Hannah L Scanga, Kunal K Dansingani, Kenneth J Taubenslag, Leonid Zlotcavitch, Bharesh K Chauhan, Christin L Sylvester, D Holmes Morton, Ken K Nischal
BACKGROUND: Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS: We conducted a retrospective case series study of patients diagnosed with PCARP and genetic testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) were reviewed...
November 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30442055/role-of-the-tissue-type-plasminogen-activator-7351c-t-and-plasminogen-activator-inhibitor-1-4g-5g-gene-polymorphisms-in-central-serous-chorioretinopathy
#2
Eva Maria Malle, Laura Posch-Pertl, Wilfried Renner, Silke Pinter-Hausberger, Christoph Singer, Anton Haas, Andreas Wedrich, Martin Weger
BACKGROUND: Central serous chorioretinopathy (CSC) is a common chorioretinal disease, characterized by choroidal hyperpermeability leading to neurosensory and/or retinal pigment epithelial detachments. Hypofibrinolysis due to higher plasma concentrations of plasminogen activator type 1 (PAI-1) or lower activity of tissue-type plasminogen activator (t-PA) has been implicated in the pathogenesis of CSC. Functional polymorphisms in the PAI-1 (SERPINE1) and t-Pa (PLAT) are thus potential risk factors for CSC...
November 15, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30426811/ophthalmic-manifestations-in-patients-with-leigh-syndrome-french-canadian-type
#3
Faye Pesenti, Erica Doucet, Charles Morin, Marcele Falcao
BACKGROUND: Leigh syndrome, French Canadian type is a rare neurodegenerative disease. To our knowledge, there have been no studies based on ocular findings published for this disease. The purpose of this study is to describe ophthalmic findings in these patients. PATIENTS: Six patients genetically identified as having the syndrome were included in this study. METHODS: Four patients had an ophthalmic examination with an ophthalmologist including evaluation of visual acuity, extraocular motility and lid position, orthoptic workup, evaluation of stereopsis, refraction, evaluation of pupils, color vision, slit-lamp biomicroscopy, measurement of intraocular pressure, and fundoscopy...
November 14, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30406707/fevr-findings-in-patients-with-loeys-dietz-syndrome-type-ii
#4
Mark A Solinksi, Michael P Blair, Harry Dietz, David Mittelman, Michael J Shapiro
BACKGROUND: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan syndrome. MATERIALS AND METHODS: Review of two cases. RESULTS: A 7-year old boy with history of LDS was found to have a vitreous hemorrhage in the right eye. Further examination showed findings of Familial Exudative Vitreoretinopathy (FEVR)...
November 8, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30358468/genetic-screening-of-russian-usher-syndrome-patients-toward-selection-for-gene-therapy
#5
Marianna E Ivanova, Vladimir N Trubilin, Dmitry S Atarshchikov, Andrey M Demchinsky, Vladimir V Strelnikov, Alexander S Tanas, Olga M Orlova, Anton S Machalov, Kira V Overchenko, Tatiana V Markova, Daria M Golenkova, Kirill I Anoshkin, Ilya V Volodin, Dmitry V Zaletaev, Andrey A Pulin, Irina I Nadelyaeva, Alexey I Kalinkin, Debmalya Barh
BACKGROUND: Usher syndrome (USH) is heterogeneous in nature and requires genetic test for diagnosis and management. Mutations in USH associated genes are reported in some populations except Russians. Here, we first time represented the mutation spectrum of a Russian USH cohort. METHODS: Twenty-eight patients with USH were selected from 3214 patients from Deaf-Blind Support Foundation "Con-nection" during 2014-2016 following the observational study NCT03319524...
October 25, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30335551/bevacizumab-for-the-treatment-of-intraretinal-cystic-spaces-in-a-patient-with-gyrate-atrophy-of-the-choroid-and-retina
#6
Ayman G Elnahry, Fatma K Hassan, Ahmed A Abdel-Kader
BACKGROUND: Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by chorioretinal atrophy due to deficiency of the enzyme ornithine aminotransferase that can be complicated by intraretinal cystic spaces. CASE REPORT: A 15-year-old female complaining of gradually progressive diminution of vision in both eyes preceded by night blindness was found to have gyrate atrophy of the choroid and retina with intraretinal cystic spaces that was evaluated using multimodal imaging including fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography...
October 18, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30335549/gene-therapy-for-rpe65-related-retinal-disease
#7
Virginia Miraldi Utz, Razek Georges Coussa, Fares Antaki, Elias I Traboulsi
Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). Following the publication of the successful Phase-III clinical trials of gene augmentation surgery for RPE65-related IRDs with voretigene neparvovec, the FDA approved the commercial use of this pharmacologic agent in December 2017...
October 18, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30289322/association-analysis-of-genetic-polymorphisms-and-expression-levels-of-selected-genes-involved-in-extracellular-matrix-turnover-and-angiogenesis-with-the-risk-of-age-related-macular-degeneration
#8
Katarzyna Oszajca, Maciej Szemraj, Janusz Szemraj, Piotr Jurowski
BACKGROUND: Age-related macular degeneration is a progressive eye disease affecting the macula and causing acute visual loss particularly in elder people. The aim of the study was an attempt to discern an influence of expression levels and functional genetic polymorphisms of selected genes related to the extracellular matrix turnover or neovascularization on age-related macular degeneration occurrence and progression. METHODS: We conducted a case-control study of 200 polish patients with recognized age-related macular degeneration (dry and wet) and compared the results with those obtained from matched 100 healthy control subjects...
October 5, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30289319/novel-causative-variants-in-patients-with-achromatopsia
#9
Ehab Abdelkader, Oliver Brandau, Carsten Bergmann, Nuha AlSalamah, Sawsan Nowilaty, Patrik Schatz
PURPOSE: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). METHODS: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). RESULTS: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) variant was detected in exon 8 (one patient), a splice site variant c...
October 5, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30285522/cfh-y402h-polymorphism-in-italian-patients-with-age-related-macular-degeneration-retinitis-pigmentosa-and-stargardt-disease
#10
Andrea Sodi, Ilaria Passerini, Daniela Bacherini, Luca Boni, Simona Palchetti, Vittoria Murro, Orsola Caporossi, Dario Pasquale Mucciolo, Fabrizio Franco, Lorenzo Vannozzi, Francesca Torricelli, Elisabetta Pelo, Stanislao Rizzo, Gianni Virgili
BACKGROUND: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a major risk factor for AMD. Recent evidences supported the role of inflammation in the pathogenesis of some retinal dystrophies. Aim of this study was to evaluate the prevalence of CFHY402H polymorphism in a group of Italian patients affected by atrophic AMD, Stargardt disease (STGD), or retinitis pigmentosa(RP). MATERIALS AND METHODS: Our case-control association study included 116 patients with atrophic AMD, 77 with RP, 86 with STGD, and 100 healthy controls...
October 4, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30260717/novel-truncating-mutation-in-cacna1f-in-a-young-male-patient-diagnosed-with-optic-atrophy
#11
Francesca Pasutto, Arif Ekici, André Reis, Jan Kremers, Cord Huchzermeyer
BACKGROUND: Low vision in children can be accompanied by pallor of the optic disc with little or no characteristic morphologic changes of the retina. A variety of diseases can be the underlying cause, including hereditary optic atrophy, Leber's congenital amaurosis (LCA), achromatopsia, and calcium channel, voltage-dependent, L-type, alpha-1F subunit gene (CACNA1F)-associated retinopathy (most widely known as incomplete congenital stationary night blindness: iCSNB). Differentiation at early age is desirable due to large differences in prognosis, but may be difficult because phenotypes overlap and electrophysiological testing is challenging in young patients...
September 27, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30222024/a-novel-missense-mutation-in-best1-associated-with-an-autosomal-dominant-vitreoretinochoroidopathy-advirc-phenotype
#12
Fukutaro Mano, Stephen A LoBue, Timothy W Olsen, Alan D Marmorstein, Jose S Pulido
BACKGROUND: To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr. MATERIALS AND METHODS: The patient was assessed by fundus photography, fluorescence and indocyanine green angiography, spectral-domain optical coherence tomography, photopic and scotopic electroretinogram (ERG), and electrooculogram (EOG). Whole-exome and Sanger sequencing of the patient's and selected family members' DNA was performed...
September 17, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30156925/the-uncommon-occurrence-of-two-common-inherited-disorders-in-a-single-patient-a-mini-case-series
#13
Francisca Zuazo, Alina V Dumitrescu
BACKGROUND: Inherited eye disorders are genetically determined conditions that are present from birth and usually manifest early, although some may develop later in life. Despite their low incidence, they are a common etiology of pediatric blindness. The occurrence of more than one such disease in a patient is very rare. MATERIAL AND METHODS: Case series of two unrelated patients with simultaneous Stargardt disease (STGD1) as well as Stickler's Syndrome (SS), both genetically confirmed...
October 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30153090/fundus-phenotype-in-retinitis-pigmentosa-associated-with-eys-mutations
#14
Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Vittoria Murro, Francesca Cipollini, Isabella Borg, Elisabetta Pelo, Elisa Contini, Gianni Virgili, Stanislao Rizzo
PURPOSE: to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS: we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwent a comprehensive opthalmological examination. Additional investigation included color fundus photography, fundus autofluorescence, Goldmann visual field, OCT scans and full-field standard electroretinography...
October 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30153077/structural-disease-progression-in-pde6-associated-autosomal-recessive-retinitis-pigmentosa
#15
Vitor K L Takahashi, Júlia T Takiuti, Ruben Jauregui, Luiz H Lima, Stephen H Tsang
BACKGROUND AND OBJECTIVE: To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. PATIENTS AND METHODS: Fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) images were obtained from seven patients with autosomal recessive RP caused by mutations in either PDE6A or PDE6B...
October 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30148417/microrna-related-polymorphisms-in-pseudoexfoliation-syndrome-pseudoexfoliative-glaucoma-and-primary-open-angle-glaucoma
#16
Anthoula Chatzikyriakidou, Panayiota Founti, Angeliki Melidou, Fani Minti, Emmanouil Bouras, Eleftherios Anastasopoulos, Theofanis Pappas, Anna-Bettina Haidich, Alexandros Lambropoulos, Fotis Topouzis
BACKGROUND: Pseudoexfoliation syndrome (PEX) and glaucoma (pseudoexfoliative glaucoma; PEXG, primary open-angle glaucoma; POAG) have mainly been studied for their associations with genes' polymorphisms. The purpose of this exploratory study was to investigate the role of polymorphisms in genes encoding for micro RNAs (miRNAs) and in genes related to miRNA biogenesis. MATERIAL AND METHODS: In the present genetic association study, ninety-two polymorphisms were investigated for their contribution to PEX (n = 203), PEXG (n = 38), and POAG (n = 40) pathogenesis compared to a control group (n = 188)...
October 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30142285/lurking-below-massive-choroidal-invasion-under-a-calcified-tumor-after-attempted-conservative-therapy-for-retinoblastoma
#17
Kaitlin Kogachi, Jonathan W Kim, Sarah Green, Rima Jubran, Jesse L Berry
BACKGROUND: In the conservative management of retinoblastoma, detection of tumor activity beneath large, calcified tumors presents a challenging aspect of care as local consolidation is limited in this area. Routine imaging modalities, including magnetic resonance imaging, B-scan ultrasound, and optical coherence tomography, are also limited in providing appropriate surveillance for recurrent disease. MATERIALS AND METHODS: Medical records were reviewed to evaluate patients' demographic data, ophthalmic exams, imaging studies, and histopathologic reports...
October 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30130436/retinal-detachment-and-infantile-onset-glaucoma-in-stickler-syndrome-associated-with-known-and-novel-col2a1-mutations
#18
Thomas J Wubben, Kari H Branham, Cagri G Besirli, Brenda L Bohnsack
BACKGROUND: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome. MATERIALS AND METHODS: Retrospective, single-center, case series of patients with Stickler syndrome...
October 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30118607/a-sibling-study-of-isolated-optic-neuropathy-associated-with-novel-variants-in-the-aco2-gene
#19
Julian C Kelman, Benjamin A Kamien, Natalia C Murray, Himanshu Goel, Clare L Fraser, John R Grigg
Inherited optic neuropathy is a rare cause of debilitating vision loss. It may occur in constellation with other syndromic features of neurological impairment, or present as an isolated finding. We describe a sibling pair, without a family history of vision loss, who developed visual impairment in early childhood consistent with optic neuropathy. Genetic testing identified novel compound heterozygous variants in the aconitase 2 (ACO2) gene. To date, seven families hosting ACO2 variants have been described in the literature...
October 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30102097/apolipoprotein-e-polymorphism-and-age-related-macular-degeneration
#20
Sora Yasri, Viroj Wiwanitkit
No abstract text is available yet for this article.
October 2018: Ophthalmic Genetics
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