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Retinal dystrophy

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https://www.readbyqxmd.com/read/29053603/clinical-and-genetic-evaluation-of-a-cohort-of-pediatric-patients-with-severe-inherited-retinal-dystrophies
#1
Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
We performed a clinical and genetic characterization of a pediatric cohort of patients with inherited retinal dystrophy (IRD) to identify the most suitable cases for gene therapy. The cohort comprised 43 patients, aged between 2 and 18 years, with severe isolated IRD at the time of presentation. The ophthalmological characterization also included assessment of the photoreceptor layer integrity in the macular region (ellipsoid zone (EZ) band). In parallel, we carried out a targeted, next-generation sequencing (NGS)-based analysis using a panel that covers over 150 genes with either an established or a candidate role in IRD pathogenesis...
October 20, 2017: Genes
https://www.readbyqxmd.com/read/29052317/defective-ciliogenesis-in-inpp5e-related-joubert-syndrome
#2
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium...
October 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29038003/hemin-supports-the-survival-of-photoreceptors-injured-by-n-methyl-n-nitrosourea-the-contributory-role-of-neuroglobin-in-photoreceptor-degeneration
#3
Ye Tao, Zhao Ma, Bei Liu, Wei Fang, Limin Qin, Yi Fei Huang, Lu Wang, Yanling Gao
Retina is a critical component of the central nerve system that is responsible for the conversion of light stimulus into electrical spikes. Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies leading to blindness. We examined retinal neuroglobin (Ngb) expression in a pharmacologically induced RP animal model, the N-Methyl-N-nitrosourea (MNU) administered mice. The retinal Ngb expression in MNU administered mice attenuated following a time dependent manner, suggesting Ngb was involved in the photoreceptor degeneration...
October 13, 2017: Brain Research
https://www.readbyqxmd.com/read/29037818/snrnp-proteins-in-health-and-disease
#4
REVIEW
Michaela Krausová, David Staněk
Split gene architecture of most human genes requires removal of intervening sequences by mRNA splicing that occurs on large multiprotein complexes called spliceosomes. Mutations compromising several spliceosomal components have been recorded in degenerative syndromes and haematological neoplasia, thereby highlighting the importance of accurate splicing execution in homeostasis of assorted adult tissues. Moreover, insufficient splicing underlies defective development of craniofacial skeleton and upper extremities...
October 13, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/29031988/new-trends-in-childhood-vision-impairment-in-a-developed-country
#5
Chengde Pham, Shivanand J Sheth, Jill E Keeffe, Susan M Carden
BACKGROUND: The Education Vision Assessment Clinic (EVAC) is a unique statewide service that reviews school children 4-18 years of age with low vision in Victoria, Australia, to determine their eligibility for educational support. The purpose of this study was to identify causes of vision impairment in students in Victoria using data from the EVAC. METHODS: Data collected from students who attended the EVAC at the Royal Victorian Eye and Ear Hospital, Melbourne, between the years 2003 and 2012 inclusive, were analyzed retrospectively...
October 12, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29030399/robust-lysosomal-calcium-signaling-through-channel-trpml1-is-impaired-by-lysosomal-lipid-accumulation
#6
Néstor Más Gómez, Wennan Lu, Jason C Lim, Kirill Kiselyov, Keith E Campagno, Yulia Grishchuk, Susan A Slaugenhaupt, Bruce A Pfeffer, Steven J Fliesler, Claire H Mitchell
The transient receptor potential cation channel mucolipin 1 (TRPML1) channel is a conduit for lysosomal calcium efflux, and channel activity may be affected by lysosomal contents. The lysosomes of retinal pigmented epithelial (RPE) cells are particularly susceptible to build-up of lysosomal waste products because they must degrade the outer segments phagocytosed daily from adjacent photoreceptors; incomplete degradation leads to accumulation of lipid waste in lysosomes. This study asks whether stimulation of TRPML1 can release lysosomal calcium in RPE cells and whether such release is affected by lysosomal accumulations...
October 13, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29016529/novel-cone-dystrophy-with-central-ellipsoid-zone-loss-associated-with-human-retinal-fascin-gene-fscn2-mutation
#7
Wei Gui, Steven Nusinowitz, David Sarraf
PURPOSE: To report the first case of a cone dystrophy with central ellipsoid zone loss associated with a mutation in the human retinal fascin gene (FSCN2). METHODS: Multimodal retinal imaging findings including spectral domain optical coherence tomography and fundus autofluorescence are presented. The results of functional testing and mutational analysis are also discussed. PATIENTS: Single patient with a diagnosis of cone dystrophy. RESULTS: Spectral domain optical coherence tomography imaging illustrated central loss of the ellipsoid zone band in each eye...
October 9, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28993665/variabilities-in-retinal-function-and-structure-in-a-canine-model-of-cone-rod-dystrophy-associated-with-rpgrip1-support-multigenic-etiology
#8
Rueben G Das, Felipe Pompeo Marinho, Simone Iwabe, Evelyn Santana, Kendra Sierra McDaid, Gustavo D Aguirre, Keiko Miyadera
Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1 (ins/ins)) as the primary disease locus while a homozygous deletion in MAP9 (MAP9 (del/del)) was later identified as a modifier associated with the early onset form. However, we find further variability in cone electroretinograms (ERGs) ranging from normal to absent in an extended RPGRIP1 (ins/ins) canine colony, irrespective of the MAP9 genotype...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28991511/prevalence-of-congenital-ocular-anomalies-among-children-with-genetic-disorders-an-egyptian-study
#9
Reham H Tomairek, Maha M Amin, Karima Raafat, Sawsan Abdel Hady, Ahmed Elkotoury
PURPOSE: To assess the pattern and frequency of occurrence of ocular anomalies among other genetic disorders in Egypt. METHODS: This is a cross-sectional study of 2500 cases presenting with genetic disorders. Cases were recruited from the clinical genetics department of the National Research Centre (NRC) over a four-year period between January 2011 and December 2014. Ophthalmological examination of the cases was performed in the pediatric ophthalmology department of Cairo University Hospitals...
October 9, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28981549/retinal-pathology-in-the-ppcd1-mouse
#10
Anna L Shen, Susan M Moran, Edward A Glover, Leandro B Teixeira, Christopher A Bradfield
Retinal phenotypes of the PPCD1 mouse, a mouse model of posterior polymorphous corneal dystrophy, have been characterized. PPCD1 mice on the DBA/2J background (D2.Ppcd1) have previously been reported to develop an enlarged anterior chamber due to epithelialization and proliferation of the corneal endothelium and subsequent blockage of the iridocorneal angle. Results presented here show that D2.Ppcd1 mice develop increased intraocular pressure (IOP), with measurements at three months of age revealing significant increases in IOP...
2017: PloS One
https://www.readbyqxmd.com/read/28973654/a-novel-duplication-of-prmd13-causes-north-carolina-macular-dystrophy-overexpression-of-prdm13-orthologue-in-drosophila-eye-reproduces-the-human-phenotype
#11
Gaël Manes, Willy Joly, Thomas Guignard, Vasily Smirnov, Sylvie Berthemy, Béatrice Bocquet, Isabelle Audo, Christina Zeitz, José Sahel, Chantal Cazevieille, Audrey Sénéchal, Jean-François Deleuze, Hélène Blanché-Koch, Anne Boland, Patrick Carroll, David Geneviève, Xavier Zanlonghi, Carl Arndt, Christian P Hamel, Sabine Defoort-Dhellemmes, Isabelle Meunier
In this study, we report a novel duplication causing North Carolina macular dystrophy (NCMD) identified applying whole genome sequencing performed on 8 affected members of two presumed unrelated families mapping to the MCDR1 locus. In our families, the NCMD phenotype was associated to a 98.4 kb tandem duplication encompassing the entire CCNC and PRDM13 genes and a common DNase 1 hypersensitivity site. To study the impact of PRDM13 or CCNC dysregulation, we used the Drosophila eye development as a model. Knock-down and overexpression of CycC and CG13296, Drosophila orthologues of CCNC and PRDM13 respectively, were induced separately during eye development...
August 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28971364/genetic-testing-in-pediatric-ophthalmology
#12
REVIEW
Ishwar Chander Verma, Preeti Paliwal, Kanika Singh
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an accurate clinical diagnosis, a careful family history that guides which genes to study, and genetic counseling (both pre-test and post-test). The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis pigmentosa, color blindness, juvenile retinoshisis, retinoblastoma etc...
October 2, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28971288/quantitative-changes-in-flow-density-in-patients-with-adult-onset-foveomacular-vitelliform-dystrophy-an-oct-angiography-study
#13
Maximilian Treder, Jost Lennart Lauermann, Maged Alnawaiseh, Peter Heiduschka, Nicole Eter
PURPOSE: To quantitatively compare the flow density, the retinal thickness, and the area of the foveal avascular zone (FAZ) between patients with adult-onset foveomacular vitelliform dystrophy (AOFVD) and a healthy controls. METHODS: Thirteen eyes (eight patients) with AOFVD and 13 matched eyes (13 patients) without any ocular pathology were included in this study. A 6 × 6 mm optical coherence tomography angiography (OCTA) scan was performed for every included eye...
October 3, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28967191/missense-variants-in-the-x-linked-gene-prps1-cause-retinal-degeneration-in-females
#14
Alessia Fiorentino, Kaoru Fujinami, Gavin Arno, Anthony G Robson, Nikolas Pontikos, Monica Arasanz Armengol, Vincent Plagnol, Takaaki Hayashi, Takeshi Iwata, Matthew Parker, Tom Fowler, Augusto Rendon, Jessica C Gardner, Robert H Henderson, Michael E Cheetham, Andrew R Webster, Michel Michaelides, Alison J Hardcastle
Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males. Heterozygous missense variants were identified in the X-linked PRPS1 gene: c.47C > T, p.(Ser16Phe); c.586C > T, p.(Arg196Trp); c.641G > C, p.(Arg214Pro) and c.640C > T, p.(Arg214Trp). Missense variants in PRPS1 are usually associated with disease in male patients, including Arts Syndrome, Charcot-Marie-Tooth and non-syndromic sensorineural deafness...
October 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/28966884/crispr-mediated-ophthalmic-genome-surgery
#15
Galaxy Y Cho, Yazeed Abdulla, Jesse D Sengillo, Sally Justus, Kellie A Schaefer, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
PURPOSE OF REVIEW: Clustered regularly interspaced short palindromic repeats (CRISPR) is a genome engineering system with great potential for clinical applications due to its versatility and programmability. This review highlights the development and use of CRISPR-mediated ophthalmic genome surgery in recent years. RECENT FINDINGS: Diverse CRISPR techniques are in development to target a wide array of ophthalmic conditions, including inherited and acquired conditions...
September 2017: Current Ophthalmology Reports
https://www.readbyqxmd.com/read/28966547/diagnostic-application-of-clinical-exome-sequencing-in-leber-congenital-amaurosis
#16
Jinu Han, John Hoon Rim, In Sik Hwang, Jieun Kim, Saeam Shin, Seung-Tae Lee, Jong Rak Choi
PURPOSE: Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS: A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targets 4,813 clinically associated genes, followed by confirmation using Sanger sequencing...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28945154/the-clinical-implications-of-molecular-monitoring-and-analyses-of-inherited-retinal-diseases
#17
Oscar F Chacón-Camacho, Leopoldo A García-Montaño, Juan C Zenteno
Retinal dystrophies (RDs) are the most common cause of inherited blindness and one of the most genetically heterogeneous human diseases. RDs arise from mutations in genes involved in development and function of photoreceptors or other retinal cells. Identification of the genetic defect causing RD allows accurate diagnosis, prognosis, and counseling in affected patients. Molecular diagnosis is a tremendous challenge in RDs due to their locus and phenotypic heterogeneity. As conventional DNA sequencing approaches are impractical in such situation, Next Generation Sequencing (NGS)-based protocols are needed to identify RD-causing mutations...
October 5, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28945142/a-novel-dominant-crx-mutation-causes-adult-onset-macular-dystrophy
#18
Joseph F Griffith, Meghan J DeBenedictis, Elias I Traboulsi
BACKGROUND: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later discovered to carry a novel nonsense mutation in the cone-rod homeobox (CRX) gene (19q13.3). MATERIALS AND METHODS: Patients received ophthalmic examinations and diagnostic testing. The proband underwent sequencing of 131 retinal dystrophy genes. His mother had targeted testing of the identified sequence variations in CRX and BBS12 (4q27)...
September 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28939808/novel-pathogenic-mutations-in-c1qtnf5-support-a-dominant-negative-disease-mechanism-in-late-onset-retinal-degeneration
#19
Chloe M Stanton, Shyamanga Borooah, Camilla Drake, Joseph A Marsh, Susan Campbell, Alan Lennon, Dinesh C Soares, Neeru A Vallabh, Jayashree Sahni, Artur V Cideciyan, Baljean Dhillon, Veronique Vitart, Samuel G Jacobson, Alan F Wright, Caroline Hayward
Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by extensive sub-retinal pigment epithelium (RPE) deposits, RPE atrophy, choroidal neovascularisation and photoreceptor cell death associated with severe visual loss. L-ORD shows striking phenotypic similarities to age-related macular degeneration (AMD), a common and genetically complex disorder, which can lead to misdiagnosis in the early stages. To date, a single missense mutation (S163R) in the C1QTNF5 gene, encoding C1q And Tumor Necrosis Factor Related Protein 5 (C1QTNF5) has been shown to cause L-ORD in a subset of affected families...
September 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28924413/pseudovitelliform-maculopathy-associated-with-deferoxamine-toxicity-multimodal-imaging-and-electrophysiology-of-a-rare-entity
#20
Kelly M Bui, SriniVas R Sadda, Hani Salehi-Had
Deferoxamine is a commonly used chelating agent for secondary hemochromatosis. We report a rare retinal manifestation of deferoxamine toxicity in a 68-year-old man and provide supporting multimodal imaging and electrophysiology. The patient had iron overload related to transfusion-dependent myelodysplastic syndrome and developed a pseudovitelliform macular lesion related to deferoxamine toxicity. We also describe for the first time the worsening of this maculopathy on deferasirox, an alternative chelating agent...
2017: Digital Journal of Ophthalmology: DJO
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