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Retinal dystrophy

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https://www.readbyqxmd.com/read/27902541/central-serous-chorioretinopathylike-mimicking-multifocal-vitelliform-macular-dystrophy-an-ocular-side-effect-of-mitogen-extracellular-signal-regulated-kinase-inhibitors
#1
Chiara Giuffrè, Elisabetta Miserocchi, Giulio Modorati, Adriano Carnevali, Alessandro Marchese, Lea Querques, Giuseppe Querques, Francesco Bandello
PURPOSE: To describe a case of multiple detachments of the neurosensory retina mimicking multifocal vitelliform macular dystrophy after chemotherapy with mitogen/extracellular signal-regulated kinase inhibitor for metastatic ovarian cancer. METHODS: Case report. RESULTS: A 38-year-old woman presented to our clinic for eye examination before the initiation of chemotherapy with trametinib. One month after starting treatment, the patient complained of vision loss and metamorphopsia in both eyes...
November 29, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27899449/deficiency-of-a-retinal-dystrophy-protein-acbd5-impairs-peroxisomal-%C3%AE-oxidation-of-very-long-chain-fatty-acids
#2
Yuichi Yagita, Kyoko Shinohara, Yuichi Abe, Keiko Nakagawa, Mohammed Al-Owain, Fowzan S Alkuraya, Yukio Fujiki
Acyl-CoA binding domain containing 5 (ACBD5) is a peroxisomal protein that carries an acyl-CoA binding domain (ACBD) at its N-terminal region. The recent identification of a mutation in the ACBD5 gene in patients with a syndromic form of retinal dystrophy highlights the physiological importance of ACBD5 in humans. However, the underlying pathogenic mechanisms and the precise function of ACBD5 remain unclear. We herein report that ACBD5 is a peroxisomal tail-anchored membrane protein exposing its ACBD to the cytosol...
November 29, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27896899/characterization-of-a-novel-form-of-progressive-retinal-atrophy-in-whippet-dogs-a-clinical-electroretinographic-and-breeding-study
#3
André Tavares Somma, Juan Carlos Duque Moreno, Mario Teruo Sato, Blanche Dreher Rodrigues, Marianna Bacellar-Galdino, Laurence Mireille Occelli, Simon Michael Petersen-Jones, Fabiano Montiani-Ferreira
OBJECTIVE: To describe a form of progressive retinal atrophy (PRA) in Whippets including clinical, electroretinographic, optical coherence tomographic changes and pedigree analysis. ANIMALS STUDIED: Client-owned Whippet dogs (n = 51) living in Brazil. PROCEDURES: All animals were submitted for routine ophthalmic screening for presumed inherited ocular disease, which included the following: visual tests, such as obstacle course tests, in scotopic and photopic conditions, cotton ball test, dazzle reflex, ocular fundus evaluation by indirect ophthalmoscopy followed by fundus photography...
November 29, 2016: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/27892788/vitamin-a-deficiency-due-to-bi-allelic-mutation-of-rbp4-there-s-more-to-it-than-meets-the-eye
#4
Kamron N Khan, Keren Carss, F Lucy Raymond, Farrah Islam, Nihr BioResource-Rare Diseases Consortium, Anthony T Moore, Michel Michaelides, Gavin Arno
Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy and ocular colobomata. This combination of clinical signs and consanguineous pedigree structure suggested a genetic basis for the disease, a hypothesis that was tested using whole genome sequencing. Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency...
November 28, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27889058/mutations-in-reep6-cause-autosomal-recessive-retinitis-pigmentosa
#5
Gavin Arno, Smriti A Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren J Carss, Alessia Fiorentino, Matthew J Hayes, Peter M Munro, Ralph Nicols, Nikolas Pontikos, Graham E Holder, Chinwe Asomugha, F Lucy Raymond, Anthony T Moore, Vincent Plagnol, Michel Michaelides, Alison J Hardcastle, Yumei Li, Catherine Cukras, Andrew R Webster, Michael E Cheetham, Rui Chen
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and outer segment development. Here we report the identification of biallelic mutations in Receptor Expression Enhancer Protein 6 (REEP6) in seven individuals with autosomal-recessive RP from five unrelated families...
November 17, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27880076/correlation-of-ultra-widefield-fundus-autofluorescence-patterns-with-the-underlying-genotype-in-retinal-dystrophies-and-retinitis-pigmentosa
#6
George Trichonas, Elias I Traboulsi, Justis P Ehlers
PURPOSE: Ultra-widefield fundus autofluorescence (UW-FAF) allows the characterization of the peripheral retinal features of vitreoretinal diseases. The purpose of this study was to examine possible genotypic/phenotypic correlations of UW-FAF patterns in patients with a variety of retinal dystrophies and retinitis pigmentosa (RP). METHODS: An IRB-approved retrospective consecutive case series study was performed of genetically characterized retinal dystrophy or RP patients who underwent UW-FAF imaging...
November 23, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27874174/compound-heterozygous-mutations-in-the-ift140-gene-cause-opitz-trigonocephaly-c-syndrome-in-a-patient-with-typical-features-of-a-ciliopathy
#7
Christian Peña-Padilla, Christian R Marshall, Susan Walker, Stephen W Scherer, Gerónimo Tavares-Macías, Gladys Razo-Jiménez, Lucina Bobadilla-Morales, Elizabeth Acosta-Fernández, Alfredo Corona-Rivera, Roberto Mendoza-Londono, Jorge Román Corona-Rivera
We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c...
November 22, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27874104/identifying-mutations-in-tunisian-families-with-retinal-dystrophy
#8
Imen Habibi, Ahmed Chebil, Yosra Falfoul, Nathalie Allaman-Pillet, Fedra Kort, Daniel F Schorderet, Leila El Matri
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequencing followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Mutation analysis in our patients revealed two compound heterozygous mutations p.(R91W);(V172D) in RPE65, and five novel homozygous mutations: p...
November 22, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27847664/spontaneous-regression-of-choroidal-neovascularization-in-a-patient-with-pattern-dystrophy
#9
Anastasios Anastasakis, Flamur Goleni, Gerasimos Livir-Rallatos, Charalampos Livir-Rallatos, Panagiotis Zafirakis, Gerald Allen Fishman
Purpose. To present a case of a patient with pattern dystrophy (PD) associated choroidal neovascularization (CNV) that resolved spontaneously without treatment. Methods. A 69-year-old male patient was referred to our unit, for evaluation of a recent visual loss (metamorphopsias) in his left eye. Fundus examination, fundus autofluorescence imaging, and fluorescein angiography showed a choroidal neovascular membrane in his left eye. Since visual acuity was satisfactory the patient elected observation. Clinical examination and OCT testing were repeated at 6 and 12 months after presentation...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27847630/clinical-applications-of-fundus-autofluorescence-in-retinal-disease
#10
REVIEW
Madeline Yung, Michael A Klufas, David Sarraf
Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Multiple commercially available imaging systems, including the fundus camera, the confocal scanning laser ophthalmoscope, and the ultra-widefield imaging device, are available to the clinician. Each offers unique advantages for evaluating various retinal diseases. The clinical applications of FAF continue to expand...
2016: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/27832746/exome-sequencing-identifies-pathogenic-variants-of-vps13b-in-a-patient-with-familial-16p11-2-duplication
#11
Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M E Suzanne Lewis
BACKGROUND: The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. CASE PRESENTATION: In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11...
November 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27832328/-ophthalmological-rehabilitation-of-visually-impaired-children
#12
E K Altpeter, N X Nguyen
BACKGROUND: There are very few studies on visually impaired children in Germany; therefore, the aim of this study was to investigate the current spectrum of diseases of visually impaired children and the care of these children in schools and kindergartens with aids and integrative support. PATIENTS AND METHODS: In a retrospective study all children (n =303) who attended the outpatient department for the visually impaired of the University Eye Hospital Tübingen in 2013 and 2014 were evaluated...
November 10, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27820636/the-spectrum-of-chm-gene-mutations-in-choroideremia-and-their-relationship-to-clinical-phenotype
#13
Matthew P Simunovic, Jasleen K Jolly, Kanmin Xue, Thomas L Edwards, Markus Groppe, Susan M Downes, Robert E MacLaren
Purpose: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. Methods: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic evaluation consisted of clinical examination, including visual acuity and residual retinal area by fundus autofluorescence (FAF). Genotype was established by sequencing. We also investigated whether particular genotypes were associated with more severe phenotypes by performing analysis of covariance (ANCOVA), with visual acuity and FAF as the dependent variables and age as the covariant...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27820424/relevance-of-identifying-jag1-mutations-in-patients-with-isolated-posterior-embryotoxon
#14
Christophe Orssaud, Matthieu P Robert, Olivier Roche
PURPOSE: Although posterior embryotoxon (PE) has a high incidence in the general population, clinicians should exclude any sign of glaucoma in its presence. This anatomic abnormality is often referred to as "isolated" when the intraocular pressure is normal. Nevertheless, it may be the only sign of Alagille syndrome (AS) that can be clinically heterogenous, as presented here. This possibility must be known, to look for involvement of other organs, and in case of suspicion, mutation of the JAG1 gene must be considered...
December 2016: Journal of Glaucoma
https://www.readbyqxmd.com/read/27799409/acbd5-deficiency-causes-a-defect-in-peroxisomal-very-long-chain-fatty-acid-metabolism
#15
Sacha Ferdinandusse, Kim D Falkenberg, Janet Koster, Petra A Mooyer, Richard Jones, Carlo W T van Roermund, Amy Pizzino, Michael Schrader, Ronald J A Wanders, Adeline Vanderver, Hans R Waterham
BACKGROUND: Acyl-CoA binding domain containing protein 5 (ACBD5) is a peroxisomal membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA binding domain, ACBD5 has been assumed to function as an intracellular carrier of acyl-CoA esters. In addition, a role for ACBD5 in pexophagy has been suggested. However, the precise role of ACBD5 in peroxisomal metabolism and/or functioning has not yet been established. Previously, a genetic ACBD5 deficiency was identified in three siblings with retinal dystrophy and white matter disease...
October 31, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27792813/asymmetrical-functional-deficits-of-on-and-off-retinal-processing-in-the-mdx3cv-mouse-model-of-duchenne-muscular-dystrophy
#16
Tina I Tsai, Mirella Telles Salgueiro Barboni, Balázs Vince Nagy, Michel J Roux, Alvaro Rendon, Dora Fix Ventura, Jan Kremers
Purpose: The dystrophin mouse mutant mdx3Cv exhibits scotopic electroretinograpic (ERG) abnormalities, which resemble clinical changes observed in Duchenne muscular dystrophy (DMD) patients. In the present study, ERGs obtained from mdx3Cv and their wild-type littermates under scotopic, mesopic, and photopic conditions were analyzed to provide further insight on the affected retinal pathways, and to compare them with human data. Methods: Electroretinograms of mdx3Cv (n = 9) and age-matched C57BL/6J mice (n = 10) included the scotopic full-field flash (for outer retinal deficits in rod pathway), scotopic threshold response (for inner retinal integrity), photopic flash, sinusoidal flicker (for outer retinal deficits in cone pathway), mesopic rapid-on/-off sawtooth flicker, and photopic long-duration flash measurements (for separate ON-/OFF-responses under different conditions)...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27785575/diagnosis-of-joubert-syndrome-via-ultrasonography
#17
Baris Buke, Emre Canverenler, Göksun İpek, Semiha Canverenler, Hatice Akkaya
Joubert syndrome (JS) and related disorders (JSRD) are a group of multiple congenital anomaly syndromes in which the diagnostic hallmark is the molar tooth sign (MTS), a complex midbrain malformation visible on brain imaging. Detection of the MTS should be followed by a diagnostic protocol to assess multi-organ involvement. The incidence of JSRD ranges between 1/80,000 and 1/100,000 live births, although these values may represent an underestimate. The neurological components of JSRD include hypotonia, ataxia, intellectual disability, abnormal eye movements, and neonatal breathing problems...
October 26, 2016: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/27782803/co-activator-candidate-interactions-for-orphan-nuclear-receptor-nr2e1
#18
Ximena Corso-Díaz, Charles N de Leeuw, Vivian Alonso, Diana Melchers, Bibiana K Y Wong, René Houtman, Elizabeth M Simpson
BACKGROUND: NR2E1 (Tlx) is an orphan nuclear receptor that regulates the maintenance and self-renewal of neural stem cells, and promotes tumourigenesis. Nr2e1-null mice exhibit reduced cortical and limbic structures and pronounced retinal dystrophy. NR2E1 functions mainly as a repressor of gene transcription in association with the co-repressors atrophin-1, LSD1, HDAC and BCL11A. Recent evidence suggests that NR2E1 also acts as an activator of gene transcription. However, co-activator complexes that interact with NR2E1 have not yet been identified...
October 26, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27777503/north-carolina-macular-dystrophy-mcdr1-caused-by-a-novel-tandem-duplication-of-the-prdm13-gene
#19
Sara J Bowne, Lori S Sullivan, Dianna K Wheaton, Kirsten G Locke, Kaylie D Jones, Daniel C Koboldt, Robert S Fulton, Richard K Wilson, Susan H Blanton, David G Birch, Stephen P Daiger
PURPOSE: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). METHODS: A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or saliva from six affected family members and three unaffected spouses was collected and DNA tested for linkage to the MCDR1 locus on chromosome 6q12. Three affected family members and two unaffected spouses underwent whole exome sequencing (WES) and subsequently, custom capture of the linkage region followed by next-generation sequencing (NGS)...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27777122/mapping-wild-type-and-r345w-fibulin-3-intracellular-interactomes
#20
John D Hulleman, Joseph C Genereux, Annie Nguyen
Fibulin-3 (F3) is an important, disulfide-rich, extracellular matrix glycoprotein that has been associated with a number of diseases ranging from cancer to retinal degeneration. An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. The purpose of this study was to identify and validate novel intracellular interacting partners of wild-type (WT) and R345W F3 in retinal pigment epithelium cells. We used stable isotope labeling by amino acids in cell culture (SILAC) to generate 'heavy' and 'light' isotopically labeled ARPE-19 cell populations which were subsequently infected with adenovirus encoding for FLAG-tagged WT or R345W F3...
October 21, 2016: Experimental Eye Research
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