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[PMID]:29217020
[Au] Autor:Davies EC; Pineda R
[Ad] Endereço:Cornea and Refractive Surgery Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.. Electronic address: emma_davies@meei.harvard.edu.
[Ti] Título:Cataract surgery outcomes and complications in retinal dystrophy patients.
[So] Source:Can J Ophthalmol;52(6):543-547, 2017 Dec.
[Is] ISSN:1715-3360
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery. DESIGN: Retrospective chart review at an academic tertiary referral centre. PARTICIPANTS: Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery. METHODS: Cases were reviewed to determine indication for surgery, intraoperative complications, postoperative findings, preoperative visual acuity, 1-month postoperative visual acuity, and patient subjective satisfaction. RESULTS: Mean best-corrected visual acuity significantly improved after cataract surgery, from 1.09 ± 0.69 preoperatively to 0.614 ± 0.448 at 1 month postoperatively, on logMAR scale (p = 0, Wilcoxon test). The most common postoperative finding was posterior capsule opacification in 20 eyes (66.7%). Visually significant cystoid macular edema occurred in 4 eyes (13.3%) despite the postoperative eye drop regimen. Patient satisfaction at 1 month postoperatively was noted as 93.3% (28 eyes) and attributed mostly to improved central vision and reduced glare symptoms. CONCLUSIONS: Patients with visually significant cataract in association with retinal dystrophy have significantly improved best-corrected visual acuity after cataract surgery and report subjectively improved visual functioning. This study confirms that several risks factors are greater in patients with retinal dystrophy, including zonular weakness, posterior capsular opacification, and cystoid macular edema, compared with the general cataract population.
[Mh] Termos MeSH primário: Catarata/complicações
Complicações Intraoperatórias
Implante de Lente Intraocular
Facoemulsificação
Complicações Pós-Operatórias
Distrofias Retinianas/complicações
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Meia-Idade
Satisfação do Paciente
Pseudofacia/fisiopatologia
Estudos Retrospectivos
Fatores de Risco
Tomografia de Coerência Óptica
Resultado do Tratamento
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:29212538
[Au] Autor:Myers MH; Iannaccone A; Bidelman GM
[Ad] Endereço:Department of Anatomy and Neurobiology, University of Tennessee Health Sciences Center, Memphis, TN, 38163, USA. mmyers25@uthsc.edu.
[Ti] Título:A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies.
[So] Source:BMC Ophthalmol;17(1):240, 2017 Dec 07.
[Is] ISSN:1471-2415
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: In this study, we examined audiovisual (AV) processing in normal and visually impaired individuals who exhibit partial loss of vision due to inherited retinal dystrophies (IRDs). METHODS: Two groups were analyzed for this pilot study: Group 1 was composed of IRD participants: two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two with the related complex disorder, Bardet-Biedl syndrome (BBS); Group 2 was composed of 15 non-IRD participants (controls). Audiovisual looming and receding stimuli (conveying perceptual motion) were used to assess the cortical processing and integration of unimodal (A or V) and multimodal (AV) sensory cues. Electroencephalography (EEG) was used to simultaneously resolve the temporal and spatial characteristics of AV processing and assess differences in neural responses between groups. Measurement of AV integration was accomplished via quantification of the EEG's spectral power and event-related brain potentials (ERPs). RESULTS: Results show that IRD individuals exhibit reduced AV integration for concurrent audio and visual (AV) stimuli but increased brain activity during the unimodal A (but not V) presentation. This was corroborated in behavioral responses, where IRD patients showed slower and less accurate judgments of AV and V stimuli but more accurate responses in the A-alone condition. CONCLUSIONS: Collectively, our findings imply a neural compensation from auditory sensory brain areas due to visual deprivation.
[Mh] Termos MeSH primário: Percepção Auditiva/fisiologia
Distrofias Retinianas/fisiopatologia
Percepção Visual/fisiologia
[Mh] Termos MeSH secundário: Estimulação Acústica/métodos
Adulto
Eletroencefalografia
Feminino
Seres Humanos
Masculino
Estimulação Luminosa/métodos
Projetos Piloto
Análise de Regressão
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.1186/s12886-017-0640-y


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[PMID]:28785766
[Au] Autor:Birtel J; Gliem M; Mangold E; Tebbe L; Spier I; Müller PL; Holz FG; Neuhaus C; Wolfrum U; Bolz HJ; Charbel Issa P
[Ad] Endereço:Department of Ophthalmology, University of Bonn, Bonn, Germany.
[Ti] Título:Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
[So] Source:Invest Ophthalmol Vis Sci;58(10):3950-3959, 2017 Aug 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: This study sought to characterize the ophthalmic and extraocular phenotype in patients with known and novel KIF11 mutations. Methods: Four patients (3, 5, 36, and 38 years of age, on father-daughter constellation) from three unrelated families were characterized by retinal examination including multimodal retinal imaging, investigation for syndromic disease manifestations, and targeted next-generation sequencing. The subcellular localization of Kif11 in the retina was analyzed by light and electron microcopy. Results: There was considerable interindividual and intrafamilial phenotypic heterogeneity of KIF11-related retinopathy. Two patients presented with a progressive retinal dystrophy, one with chorioretinal dysplasia and one with familial exudative vitreoretinopathy (FEVR) in one eye and thinning of the photoreceptor layer in the fellow eye. Obvious syndromic disease manifestations were present only in the youngest patient, but minor signs (e.g. reduced head circumference) were present in the three other individuals. Immunohistochemistry results demonstrated Kif11 localization in the inner segment and ciliary compartments of photoreceptor cells and in the retinal pigment epithelium. Conclusions: Progressive retinal degeneration in KIF11-related retinopathy indicates a role for KIF11 not only in ocular development but also in maintaining retinal morphology and function. The remarkable variability of the ocular phenotype suggests four different types of retinopathy which may overlap. KIF11 should be considered in the screening of patients with retinal dystrophies because other syndromic manifestations may be subtle. Evaluation of head circumference may be considered as a potential shortcut to the genetic diagnosis. The localization of Kif11 in photoreceptor cells indicates a retinal ciliopathy.
[Mh] Termos MeSH primário: Cinesina/genética
Mutação
Distrofias Retinianas/genética
[Mh] Termos MeSH secundário: Adulto
Animais
Western Blotting
Pré-Escolar
Análise Mutacional de DNA
Eletrorretinografia
Feminino
Angiofluoresceinografia
Aconselhamento Genético
Seres Humanos
Cinesina/metabolismo
Masculino
Camundongos
Imagem Multimodal
Imagem Óptica
Linhagem
Fenótipo
Células Fotorreceptoras de Vertebrados/metabolismo
Distrofias Retinianas/diagnóstico
Distrofias Retinianas/metabolismo
Tomografia de Coerência Óptica
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KIF11 protein, human); EC 3.6.1.- (Eg5 protein, mouse); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170809
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21679


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[PMID]:28751151
[Au] Autor:Hendriks M; Verhoeven VJM; Buitendijk GHS; Polling JR; Meester-Smoor MA; Hofman A; Kamermans M; Ingeborgh van den Born L; Klaver CCW; RD5000 Consortium
[Ad] Endereço:The Rotterdam Eye Hospital, Rotterdam, Netherlands.
[Ti] Título:Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
[So] Source:Am J Ophthalmol;182:81-89, 2017 Oct.
[Is] ISSN:1879-1891
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive errors, a study investigating the affected cell type, causal gene, and refractive error in IRDs may provide insight herein. DESIGN: Case-control study. METHODS: Study Population: Total of 302 patients with IRD from 2 ophthalmogenetic centers in the Netherlands. Reference Population: Population-based Rotterdam Study-III and Erasmus Rucphen Family Study (N = 5550). Distributions and mean spherical equivalent (SE) were calculated for main affected cell type and causal gene; and risks of myopia and hyperopia were evaluated using logistic regression. RESULTS: Bipolar cell-related dystrophies were associated with the highest risk of SE high myopia 239.7; odds ratio (OR) mild hyperopia 263.2, both P < .0001; SE -6.86 diopters (D) (standard deviation [SD] 6.38), followed by cone-dominated dystrophies (OR high myopia 19.5, P < .0001; OR high hyperopia 10.7, P = .033; SE -3.10 D [SD 4.49]); rod dominated dystrophies (OR high myopia 10.1, P < .0001; OR high hyperopia 9.7, P = .001; SE -2.27 D [SD 4.65]), and retinal pigment epithelium (RPE)-related dystrophies (OR low myopia 2.7; P = .001; OR high hyperopia 5.8; P = .025; SE -0.10 D [SD 3.09]). Mutations in RPGR (SE -7.63 D [SD 3.31]) and CACNA1F (SE -5.33 D [SD 3.10]) coincided with the highest degree of myopia and in CABP4 (SE 4.81 D [SD 0.35]) with the highest degree of hyperopia. CONCLUSIONS: Refractive errors, in particular myopia, are common in IRD. The bipolar synapse and the inner and outer segments of the photoreceptor may serve as critical sites for myopia development.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias/complicações
Hiperopia/etiologia
Miopia/etiologia
Células Bipolares da Retina/patologia
Distrofias Retinianas/complicações
Segmento Interno das Células Fotorreceptoras da Retina/patologia
Segmento Externo das Células Fotorreceptoras da Retina/patologia
[Mh] Termos MeSH secundário: Adulto
Canais de Cálcio Tipo L/genética
Proteínas de Ligação ao Cálcio/genética
Estudos de Casos e Controles
Análise Mutacional de DNA
Oftalmopatias Hereditárias/diagnóstico
Oftalmopatias Hereditárias/genética
Proteínas do Olho/genética
Feminino
Seres Humanos
Hiperopia/diagnóstico
Masculino
Meia-Idade
Mutação/genética
Miopia/diagnóstico
Distrofias Retinianas/diagnóstico
Distrofias Retinianas/genética
Fatores de Risco
Sinapses/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (CABP4 protein, human); 0 (CACNA1F protein, human); 0 (Calcium Channels, L-Type); 0 (Calcium-Binding Proteins); 0 (Eye Proteins); 0 (RPGR protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170729
[St] Status:MEDLINE


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[PMID]:28689169
[Au] Autor:Kumaran N; Moore AT; Weleber RG; Michaelides M
[Ad] Endereço:UCL Institute of Ophthalmology, University College London, London, UK.
[Ti] Título:Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
[So] Source:Br J Ophthalmol;101(9):1147-1154, 2017 Sep.
[Is] ISSN:1468-2079
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias
Amaurose Congênita de Leber
Distrofias Retinianas
[Mh] Termos MeSH secundário: Animais
Tratamento Farmacológico
Oftalmopatias Hereditárias/diagnóstico
Oftalmopatias Hereditárias/genética
Oftalmopatias Hereditárias/terapia
Proteínas do Olho/genética
Terapia Genética
Genótipo
Seres Humanos
Amaurose Congênita de Leber/diagnóstico
Amaurose Congênita de Leber/genética
Amaurose Congênita de Leber/terapia
Biologia Molecular
Mutação
Distrofias Retinianas/diagnóstico
Distrofias Retinianas/genética
Distrofias Retinianas/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Eye Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170908
[Lr] Data última revisão:
170908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170710
[St] Status:MEDLINE
[do] DOI:10.1136/bjophthalmol-2016-309975


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[PMID]:28650875
[Au] Autor:Sadagopan KA
[Ad] Endereço:aSenior Consultant and International Faculty, Pediatric Ophthalmology & Ocular Genetics, C-MER (Shenzhen) Dennis Lam Eye Hospital, Shenzhen, China bDepartment of Pediatric Ophthalmology and Adult Strabismus, Aravind Eye Hospital, Anna Nagar, Madurai, India cLumbini Eye Institute, Shree Rana Ambika Shah Eye Hospital, Rupandehi, Bhairahawa, Nepal.
[Ti] Título:Practical approach to syndromic pediatric retinal dystrophies.
[So] Source:Curr Opin Ophthalmol;28(5):416-429, 2017 Sep.
[Is] ISSN:1531-7021
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: The purpose of this review is to outline those systemic disorders that are associated with pediatric retinal dystrophy, summarize important retinal, and nonretinal clues that aid in syndromic diagnosis, provide an approach for ophthalmic and systematic systemic examination, describe the important systemic findings seen in pediatric syndromic retinal dystrophies and highlight the role of genetic testing. RECENT FINDINGS: With profound advances being made in the field of molecular genetics, a definitive molecular etiology is increasingly being made even in rare and unusual forms of retinal dystrophies. Early recognition and precise diagnosis of a syndromic association has major clinical implications. It not only ensures early and holistic care to the child but also provides an opportunity for the parents in better understanding the nature and course of the disorder. It greatly aids in genetic counseling. SUMMARY: Many syndromic retinal dystrophies may present initially to the ophthalmologist long before they present to the pediatrician with systemic symptoms. The intent of this article is to act as a resource in assisting the ophthalmologist to arrive at an early systemic diagnosis.
[Mh] Termos MeSH primário: Técnicas de Diagnóstico Oftalmológico
Diagnóstico Precoce
Testes Genéticos/métodos
Distrofias Retinianas/diagnóstico
[Mh] Termos MeSH secundário: Criança
Seres Humanos
Distrofias Retinianas/genética
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170627
[St] Status:MEDLINE
[do] DOI:10.1097/ICU.0000000000000404


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[PMID]:28593392
[Au] Autor:Boulanger-Scemama E; Akesbi J; Tick S; Mohand-Said S; Sahel JA; Audo I
[Ad] Endereço:Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
[Ti] Título:Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss.
[So] Source:Doc Ophthalmol;135(1):77-83, 2017 Aug.
[Is] ISSN:1573-2622
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Patients with unusual macular retinal pigment epithelium (RPE) hypopigmentation are described and analyzed using retinal multimodal imaging. METHODS: We report three cases of patients with unilateral (2) or bilateral (1) macular lesions discovered incidentally on fundoscopy. A comprehensive ophthalmic examination including visual acuity, fundoscopy, spectral-domain optical coherence tomography (SD-OCT), short-wavelength light and near-infrared autofluorescence, fluorescein angiography, microperimetry, multifocal electroretinogram, adaptive optics (AO), and OCT-angiography (OCT-A) has been performed. RESULTS: Visual acuity was 20/20 in both eyes of all patients. The lesion appeared hyperautofluorescent on short-wavelength light and hypoautofluorescent on near-infrared light. Fluorescein angiography revealed a sharply demarcated macular hyperfluorescence without any leakage, suggesting a window defect. Interestingly, SD-OCT revealed only a choroidal hyperreflectivity in relation to the lesions without any abnormality of the outer retinal layers. Microperimetry was normal except for 1 patient with bilateral lesion and subtle decrease in macular sensitivity. Mf ERG was normal in all three patients. AO showed a well-preserved cone mosaic, suggesting that the abnormality was localized under the photoreceptor layers. OCT-A revealed hyperreflectivity just below the RPE layer, corresponding to the macular lesion observed on fundoscopy and the choroidal hyperreflectivity seen on SD-OCT. CONCLUSIONS: Macular RPE hypopigmentation should be considered in case of an isolated macular lesion without functional visual impairment or anatomical defect on SD-OCT.
[Mh] Termos MeSH primário: Hipopigmentação/diagnóstico
Imagem Multimodal
Distrofias Retinianas/diagnóstico
Epitélio Pigmentado da Retina/patologia
Transtornos da Visão/fisiopatologia
Acuidade Visual/fisiologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Eletrorretinografia
Feminino
Angiofluoresceinografia
Seres Humanos
Hipopigmentação/fisiopatologia
Masculino
Oftalmoscopia
Distrofias Retinianas/fisiopatologia
Tomografia de Coerência Óptica/métodos
Testes de Campo Visual
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1007/s10633-017-9592-z


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[PMID]:28590779
[Au] Autor:Braverman I; Blumen SC; Newman H; Rizel L; Khayat M; Hanna R; St Guily JL; Tiosano B; Ben-Yosef T
[Ad] Endereço:1 Otolaryngology, Head and Neck Surgery Unit, Hillel Yaffe Medical Center , Hadera, Israel .
[Ti] Título:Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
[So] Source:Genet Test Mol Biomarkers;21(7):450-453, 2017 Jul.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIM: We have previously described two unrelated Bukhara Jews (BJs) with a combination of oculopharyngeal muscular dystrophy (OPMD) and inherited retinal dystrophy (IRD), because of mutations in two linked genes: PABPN1 and NRL. Here we investigated the prevalence of the NRL mutation among BJs with OPMD. MATERIALS AND METHODS: PABPN1 and NRL mutation testing were performed by polymerase chain reaction amplification and direct sequencing on two cohorts of Bukhara Jewish patients: OPMD patients (with or without IRD) and IRD patients (without OPMD). RESULTS: Of 24 unrelated chromosomes from Bukhara Jewish OPMD patients, 19 (79%) harbored the NRL mutation. In contrast, the NRL mutation was not detected in Bukhara Jewish patients diagnosed with IRD but without OPMD. CONCLUSIONS: Our findings provide an explanation for the reoccurrence of IRD in Bukhara Jewish OPMD homozygotes. Moreover, they indicate that Bukhara Jewish OPMD patients are at high risk for carrying the NRL mutation, and should be offered appropriate genetic counseling and testing.
[Mh] Termos MeSH primário: Fatores de Transcrição de Zíper de Leucina Básica/genética
Proteínas do Olho/genética
Proteína I de Ligação a Poli(A)/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Fatores de Transcrição de Zíper de Leucina Básica/metabolismo
Estudos de Coortes
Grupos Étnicos/genética
Proteínas do Olho/metabolismo
Feminino
Homozigoto
Seres Humanos
Judeus/genética
Masculino
Meia-Idade
Distrofia Muscular Oculofaríngea/genética
Mutação
Linhagem
Proteína I de Ligação a Poli(A)/metabolismo
Distrofias Retinianas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Basic-Leucine Zipper Transcription Factors); 0 (Eye Proteins); 0 (NRL protein, human); 0 (PABPN1 protein, human); 0 (Poly(A)-Binding Protein I)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170608
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0429


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[PMID]:28586915
[Au] Autor:Khan KN; El-Asrag ME; Ku CA; Holder GE; McKibbin M; Arno G; Poulter JA; Carss K; Bommireddy T; Bagheri S; Bakall B; Scholl HP; Raymond FL; Toomes C; Inglehearn CF; Pennesi ME; Moore AT; Michaelides M; Webster AR; Ali M; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium
[Ad] Endereço:University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom 3Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Ho
[Ti] Título:Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
[So] Source:Invest Ophthalmol Vis Sci;58(7):2906-2914, 2017 Jun 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. Methods: Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology. Whole exome or genome next generation sequencing was performed on genomic DNA from at least one affected family member. Immunofluorescence confocal microscopy of murine retina cross-sections were used to localize the protein. Results: Compound heterozygous alleles were identified in six cases, one of which was always p.Glu336Gln. Such combinations resulted in isolated macular disease. Six further cases were homozygous for the variant p.Met454Thr, identified as a founder mutation of South Asian origin. Those patients had widespread generalized retinal disease, characterized by electroretinography as a rod-cone dystrophy with severe macular involvement. In addition, the photopic single flash electroretinograms demonstrated a reduced b- to a-wave amplitude ratio, suggesting dysfunction occurring after phototransduction. Immunohistology identified MFSD8 in the outer plexiform layer of the retina, a site rich in photoreceptor synapses. Conclusions: This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. The data also shed light on the underlying pathogenesis by implicating the photoreceptor synaptic terminals as the major site of retinal disease.
[Mh] Termos MeSH primário: DNA/genética
Proteínas de Membrana Transportadoras/genética
Mutação
Células Fotorreceptoras de Vertebrados/metabolismo
Terminações Pré-Sinápticas/metabolismo
Distrofias Retinianas/genética
[Mh] Termos MeSH secundário: Adulto
Análise Mutacional de DNA
Exoma
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Homozigoto
Seres Humanos
Masculino
Proteínas de Membrana Transportadoras/metabolismo
Microscopia Confocal
Meia-Idade
Linhagem
Células Fotorreceptoras de Vertebrados/patologia
Terminações Pré-Sinápticas/patologia
Distrofias Retinianas/metabolismo
Distrofias Retinianas/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (MFSD8 protein, human); 0 (Membrane Transport Proteins); 9007-49-2 (DNA)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-20608


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[PMID]:28418496
[Au] Autor:Li L; Chen Y; Jiao X; Jin C; Jiang D; Tanwar M; Ma Z; Huang L; Ma X; Sun W; Chen J; Ma Y; M'hamdi O; Govindarajan G; Cabrera PE; Li J; Gupta N; Naeem MA; Khan SN; Riazuddin S; Akram J; Ayyagari R; Sieving PA; Riazuddin SA; Hejtmancik JF
[Ad] Endereço:Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China 2Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.
[Ti] Título:Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
[So] Source:Invest Ophthalmol Vis Sci;58(4):2218-2238, 2017 Apr 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This study was carried out to delineate the genetic architecture of arRD in the Pakistani population. Methods: The genetic origin of arRD in a total of 144 families selected only for having consanguineous marriages and multiple members affected with arRD was examined. Of these, causative mutations had been identified in 62 families while only the locus had been identified for an additional 15. The remaining 67 families were subjected to homozygosity exclusion mapping by screening of closely flanking microsatellite markers at 180 known candidate genes/loci followed by sequencing of the candidate gene for pathogenic changes. Results: Of these 67 families subjected to homozygosity mapping, 38 showed homozygosity for at least one of the 180 regions, and sequencing of the corresponding genes showed homozygous cosegregating mutations in 27 families. Overall, mutations were detected in approximately 61.8 % (89/144) of arRD families tested, with another 10.4% (15/144) being mapped to a locus but without a gene identified. Conclusions: These results suggest the involvement of unmapped novel genes in the remaining 27.8% (40/144) of families. In addition, this study demonstrates that homozygosity mapping remains a powerful tool for identifying the genetic defect underlying genetically heterogeneous arRD disorders in consanguineous marriages for both research and clinical applications.
[Mh] Termos MeSH primário: Consanguinidade
Genes Recessivos/genética
Distrofias Retinianas/genética
[Mh] Termos MeSH secundário: Mapeamento Cromossômico
Feminino
Ligação Genética
Predisposição Genética para Doença/genética
Testes Genéticos
Variação Genética/genética
Haplótipos
Homozigoto
Seres Humanos
Masculino
Repetições de Microssatélites/genética
Paquistão
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170426
[Lr] Data última revisão:
170426
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170419
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21424



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