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[PMID]:28846119
[Au] Autor:Vemala R; Sivaprasad S; Barbur JL
[Ad] Endereço:King's College Hospital, Denmark Hill, London, United Kingdom.
[Ti] Título:Detection of Early Loss of Color Vision in Age-Related Macular Degeneration - With Emphasis on Drusen and Reticular Pseudodrusen.
[So] Source:Invest Ophthalmol Vis Sci;58(6):BIO247-BIO254, 2017 May 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: To evaluate chromatic sensitivity in patients with age-related macular degeneration (AMD) characterized by drusen and reticular pseudodrusen. To investigate whether the severity of color vision loss can distinguish between various stages of AMD and hence be used as an index of progression toward advanced AMD. Methods: Chromatic sensitivity was measured by using the Color Assessment and Diagnosis (CAD) test in asymptomatic individuals with early and intermediate AMD and compared to normative data. All study participants had logMAR visual acuity of 0.3 or better. The CAD thresholds measured in eyes with and without reticular pseudodrusen were also compared and related to central macular thickness (CMT). Student's t-test P values < 0.05 were considered significant. Results: All early- and intermediate-AMD eyes (n = 90) had chromatic sensitivity loss in either RG (red/green) or YB (yellow/blue), or both (P < 0.0001) as compared to age-matched normal subjects. The eyes exhibited a range of CAD thresholds affecting both color mechanisms, but YB color thresholds were in general higher than RG thresholds (P < 0.001). Intermediate-AMD patients exhibited large intersubject variability. In general, eyes with reticular pseudodrusen and eyes with CMT < 200 µm had significantly higher CAD thresholds. Conclusions: The anatomic integrity of cone photoreceptors remains relatively unaffected in early and intermediate stages of AMD. The processing of cone signals in the retina can, however, be heavily disrupted with subsequent loss of both YB and RG chromatic sensitivity. The greatest losses were observed in eyes with reticular pseudodrusen.
[Mh] Termos MeSH primário: Defeitos da Visão Cromática/diagnóstico
Degeneração Macular/diagnóstico
Drusas Retinianas/diagnóstico
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Testes de Percepção de Cores
Feminino
Angiofluoresceinografia
Seres Humanos
Masculino
Meia-Idade
Estudos Prospectivos
Tomografia de Coerência Óptica
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170829
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21771


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[PMID]:28837966
[Au] Autor:Barboni MTS; Nagy BV; Martins CMG; Bonci DMO; Hauzman E; Aher A; Tsai TI; Kremers J; Ventura DF
[Ad] Endereço:Department of Experimental Psychology, University of Sao Paulo, Brazil.
[Ti] Título:L-/M-cone opponency in visual evoked potentials of human cortex.
[So] Source:J Vis;17(9):20, 2017 Aug 01.
[Is] ISSN:1534-7362
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:L and M cones send their signals to the cortex using two chromatic (parvocellular and blue-yellow koniocellular) and one luminance (magnocellular) pathways. These pathways contain ON and OFF subpathways that respond to excitation increments and decrements respectively. Here, we report on visually evoked potentials (VEP) recordings that reflect L- and M-cone driven increment (LI and MI) and decrement (LD and MD) activity. VEP recordings were performed on 12 trichromats and four dichromats (two protanopes and two deuteranopes). We found that the responses to LI strongly resembled those to MD, and that LD and MI responses were very similar. Moreover, the lack of a photoreceptor type (L or M) in the dichromats led to a dominance of the ON pathway of the remaining photoreceptor type. These results provide electrophysiological evidence that antagonistic L/M signal processing, already present in the retina and the lateral geniculate nucleus (LGN), is also observed at the visual cortex. These data are in agreement with results from human psychophysics where MI stimuli lead to a perceived brightness decrease whereas LI stimuli resulted in perceived brightness increases. VEP recording is a noninvasive tool that can be easily and painlessly applied. We propose that the technique may provide information in the diagnosis of color vision deficiencies.
[Mh] Termos MeSH primário: Percepção de Cores/fisiologia
Defeitos da Visão Cromática/fisiopatologia
Potenciais Evocados Visuais/fisiologia
Corpos Geniculados/fisiologia
Células Fotorreceptoras Retinianas Cones/fisiologia
Córtex Visual/fisiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Seres Humanos
Estimulação Luminosa/métodos
Vias Visuais/fisiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170825
[St] Status:MEDLINE
[do] DOI:10.1167/17.9.20


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[PMID]:28837721
[Au] Autor:Martin GC; Dénier C; Zambrowski O; Grévent D; Bruère L; Brousse V; de Montalembert M; Brémond-Gignac D; Robert MP
[Ad] Endereço:Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France.
[Ti] Título:Visual Function in Asymptomatic Patients With Homozygous Sickle Cell Disease and Temporal Macular Atrophy.
[So] Source:JAMA Ophthalmol;135(10):1100-1105, 2017 Oct 01.
[Is] ISSN:2168-6173
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Temporal macular involvement in sickle cell disease can now easily be detected by optical coherence tomography (OCT). However, while recent studies have demonstrated its high prevalence, little is known about its potential consequences on visual function. Objective: To assess the visual function of patients with sickle cell disease with no visual symptoms despite temporal macular atrophy. Design, Setting, and Participants: This retrospective case series included data collection and explorations made in a single referral center for sickle cell disease in 2016. Three patients with sickle cell disease exhibiting preserved visual acuity but showing temporal macular retinal atrophy were included. Exposures: Patients underwent the following explorations: best-corrected distance and near visual acuity evaluation; dilated fundus examination; OCT with 12 × 6-mm thickness map; horizontal, vertical, and en face sections; OCT angiography of the 6 × 6-mm perifoveal retina; 30° and 12° central visual fields; Lanthony 15-hue color vision test; automated static contrast sensitivity test; and global electroretinography. Main Outcomes and Measures: The OCT thickness maps were checked for areas of retinal thinning, appearing as blue patches. When present, these areas were compared with the areas of superficial and deep capillary flow loss on OCT angiography and with the scotomas on visual fields. Contrast sensitivity and color vision loss were quantified. Results: All 3 patients included had homozygous sickle cell disease. They presented with a 20/20 distance visual acuity, and Parinaud 1,5 near visual acuity in both eyes. They were all followed up for a severe cerebral vasculopathy related to sickle cell disease. The areas of atrophy involved the inner retinal layers and were associated with an absence of signal in the deep capillary plexuses in OCT angiography. These patches of retinal thinning were also matching with scotomas in the automated visual fields. Color vision ability and contrast sensitivity were impaired in all patients. Global electroretinography findings were normal. Conclusions and Relevance: Temporal macular atrophy in sickle cell disease may have direct consequences on visual function, including in children, even when visual acuity is preserved. Optical coherence tomographic imaging may be warranted when evaluating patients with sickle cell disease, even if asymptomatic with 20/20 visual acuity.
[Mh] Termos MeSH primário: Anemia Falciforme/fisiopatologia
Doenças Assintomáticas
Defeitos da Visão Cromática/fisiopatologia
Macula Lutea/patologia
Escotoma/fisiopatologia
Acuidade Visual/fisiologia
[Mh] Termos MeSH secundário: Adolescente
Atrofia
Criança
Angiografia por Tomografia Computadorizada
Sensibilidades de Contraste/fisiologia
Seres Humanos
Masculino
Estudos Retrospectivos
Tomografia de Coerência Óptica
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170825
[St] Status:MEDLINE
[do] DOI:10.1001/jamaophthalmol.2017.3008


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[PMID]:28715587
[Au] Autor:Aboshiha J; Kumaran N; Kalitzeos A; Hogg C; Rubin G; Michaelides M
[Ad] Endereço:UCL Institute of Ophthalmology, University College London, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom.
[Ti] Título:A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.
[So] Source:Invest Ophthalmol Vis Sci;58(9):3537-3546, 2017 Jul 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Photoaversion (PA) is a disabling and ubiquitous feature of achromatopsia (ACHM). We aimed to help define the characteristics of this important symptom, and present the first published assessment of its impact on patients' lives, as well as quantitative and qualitative PA assessments. Methods: Molecularly confirmed ACHM subjects were assessed for PA using four tasks: structured survey of patient experience, novel quantitative subjective measurement of PA, visual acuities in differing ambient lighting, and objective palpebral aperture-related PA testing. Results: Photoaversion in ACHM was found to be the most significant symptom for a substantial proportion (38%) of patients. A novel subjective PA measurement technique was developed and demonstrated fidelity with more invasive paradigms without exposing often very photosensitive patients to brighter light intensities used elsewhere. An objective PA measurement was also refined for use in trials, indicating that higher light intensities than previously published are likely to be needed. Monocular testing, as required for trials, was also validated for the first time. Conclusions: This study offers new insights into PA in ACHM. It provides the first structured evidence of the great significance of this symptom to patients, suggesting that PA should be considered as an additional outcome measure in therapeutic trials. It also offers new insights into the characteristics of PA in ACHM, and describes both subjective and objective measures of PA that could be employed in clinical trials.
[Mh] Termos MeSH primário: Defeitos da Visão Cromática/fisiopatologia
Fotofobia/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Defeitos da Visão Cromática/diagnóstico
Eletrorretinografia
Feminino
Seres Humanos
Luz
Masculino
Fotofobia/diagnóstico
Retina/fisiopatologia
Inquéritos e Questionários
Tomografia de Coerência Óptica/métodos
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170728
[Lr] Data última revisão:
170728
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21935


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[PMID]:28495882
[Au] Autor:Butler MR; Ma H; Yang F; Belcher J; Le YZ; Mikoshiba K; Biel M; Michalakis S; Iuso A; Krizaj D; Ding XQ
[Ad] Endereço:From the Departments of Cell Biology.
[Ti] Título:Endoplasmic reticulum (ER) Ca -channel activity contributes to ER stress and cone death in cyclic nucleotide-gated channel deficiency.
[So] Source:J Biol Chem;292(27):11189-11205, 2017 Jul 07.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Endoplasmic reticulum (ER) stress and mislocalization of improperly folded proteins have been shown to contribute to photoreceptor death in models of inherited retinal degenerative diseases. In particular, mice with cone cyclic nucleotide-gated (CNG) channel deficiency, a model for achromatopsia, display both early-onset ER stress and opsin mistrafficking. By 2 weeks of age, these mice show elevated signaling from all three arms of the ER-stress pathway, and by 1 month, cone opsin is improperly distributed away from its normal outer segment location to other retinal layers. This work investigated the role of Ca -release channels in ER stress, protein mislocalization, and cone death in a mouse model of CNG-channel deficiency. We examined whether preservation of luminal Ca stores through pharmacological and genetic suppression of ER Ca efflux protects cones by attenuating ER stress. We demonstrated that the inhibition of ER Ca -efflux channels reduced all three arms of ER-stress signaling while improving opsin trafficking to cone outer segments and decreasing cone death by 20-35%. Cone-specific gene deletion of the inositol-1,4,5-trisphosphate receptor type I (IP R1) also significantly increased cone density in the CNG-channel-deficient mice, suggesting that IP R1 signaling contributes to Ca homeostasis and cone survival. Consistent with the important contribution of organellar Ca signaling in this achromatopsia mouse model, significant differences in dynamic intraorganellar Ca levels were detected in CNG-channel-deficient cones. These results thus identify a novel molecular link between Ca homeostasis and cone degeneration, thereby revealing novel therapeutic targets to preserve cones in inherited retinal degenerative diseases.
[Mh] Termos MeSH primário: Sinalização do Cálcio
Defeitos da Visão Cromática/metabolismo
Estresse do Retículo Endoplasmático
Retículo Endoplasmático/metabolismo
Receptores de Inositol 1,4,5-Trifosfato/metabolismo
Ativação do Canal Iônico
Células Fotorreceptoras Retinianas Cones/metabolismo
[Mh] Termos MeSH secundário: Animais
Morte Celular/genética
Sobrevivência Celular
Defeitos da Visão Cromática/genética
Modelos Animais de Doenças
Retículo Endoplasmático/genética
Receptores de Inositol 1,4,5-Trifosfato/genética
Camundongos
Camundongos Knockout
Células Fotorreceptoras Retinianas Cones/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Inositol 1,4,5-Trisphosphate Receptors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170714
[Lr] Data última revisão:
170714
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M117.782326


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[PMID]:28478700
[Au] Autor:Gootwine E; Ofri R; Banin E; Obolensky A; Averbukh E; Ezra-Elia R; Ross M; Honig H; Rosov A; Yamin E; Ye GJ; Knop DR; Robinson PM; Chulay JD; Shearman MS
[Ad] Endereço:1 Agricultural Research Organization, The Volcani Center , Rishon LeZion, Israel .
[Ti] Título:Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep.
[So] Source:Hum Gene Ther Clin Dev;28(2):96-107, 2017 Jun.
[Is] ISSN:2324-8645
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Applied Genetic Technologies Corporation (AGTC) is developing a recombinant adeno-associated virus (rAAV) vector expressing the human CNGA3 gene designated AGTC-402 (rAAV2tYF-PR1.7-hCNGA3) for the treatment of achromatopsia, an inherited retinal disorder characterized by markedly reduced visual acuity, extreme light sensitivity, and absence of color discrimination. The results are herein reported of a study evaluating safety and efficacy of AGTC-402 in CNGA3-deficient sheep. Thirteen day-blind sheep divided into three groups of four or five animals each received a subretinal injection of an AAV vector expressing a CNGA3 gene in a volume of 500 µL in the right eye. Two groups (n = 9) received either a lower or higher dose of the AGTC-402 vector, and one efficacy control group (n = 4) received a vector similar in design to one previously shown to rescue cone photoreceptor responses in the day-blind sheep model (rAAV5-PR2.1-hCNGA3). The left eye of each animal received a subretinal injection of 500 µL of vehicle (n = 4) or was untreated (n = 9). Subretinal injections were generally well tolerated and not associated with systemic toxicity. Most animals had mild to moderate conjunctival hyperemia, chemosis, and subconjunctival hemorrhage immediately after surgery that generally resolved by postoperative day 7. Two animals treated with the higher dose of AGTC-402 and three of the efficacy control group animals had microscopic findings of outer retinal atrophy with or without inflammatory cells in the retina and choroid that were procedural and/or test-article related. All vector-treated eyes showed improved cone-mediated electroretinography responses with no change in rod-mediated electroretinography responses. Behavioral maze testing under photopic conditions showed significantly improved navigation times and reduced numbers of obstacle collisions in all vector-treated eyes compared to their contralateral control eyes or pre-dose results in the treated eyes. These results support the use of AGTC-402 in clinical studies in patients with achromatopsia caused by CNGA3 mutations, with careful evaluation for possible inflammatory and/or toxic effects.
[Mh] Termos MeSH primário: Defeitos da Visão Cromática/terapia
Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética
Terapia Genética/efeitos adversos
Vetores Genéticos/efeitos adversos
[Mh] Termos MeSH secundário: Animais
Defeitos da Visão Cromática/genética
Canais de Cátion Regulados por Nucleotídeos Cíclicos/metabolismo
Dependovirus/genética
Vetores Genéticos/administração & dosagem
Hemorragia/etiologia
Hiperemia/etiologia
Injeções Intraoculares
Células Fotorreceptoras Retinianas Cones/metabolismo
Ovinos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNGA3 protein, human); 0 (Cyclic Nucleotide-Gated Cation Channels)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170509
[St] Status:MEDLINE
[do] DOI:10.1089/humc.2017.028


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[PMID]:28379567
[Au] Autor:Campi I; Cammarata G; Bianchi Marzoli S; Beck-Peccoz P; Santarsiero D; Dazzi D; Bottari de Castello A; Taroni EG; Viola F; Mian C; Watutantrige-Fernando S; Pelusi C; Muzza M; Maffini MA; Persani L
[Ad] Endereço:Division of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Research, Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Auxologico Italiano, 20149 Milan, Italy.
[Ti] Título:Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHß).
[So] Source:J Clin Endocrinol Metab;102(7):2620-2627, 2017 Jul 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: In animal models, disruption of thyroid hormone (TH) receptor-ß (TRß) reduces the long/medium wavelength (L/M) and increases the short-wavelength (S) cones. Retinal photoreceptor (RP) functions are unknown in patients with resistance to TH syndrome (RTHß) with dominant-negative TRß mutations. Objective: To investigate RP functions in RTHß. Design, Setting, and Participants: Case-control study involving 27 RTHß patients and 31 age/sex-matched controls, conducted in two tertiary referral centers in Italy. Main Outcome Measures: Color vision sensitivity assessed by Farnsworth; central macular thickness (CMT) of the outer retinal layer measured by spectral-domain optical coherence tomography; and retinal function tested by full-field electroretinogram (ERG) and S-cone ERG. Results: Color sensitivity was worse in RTHß patients than controls (P = 0.002). CMT was overlapping between the study groups but directly correlated with sex hormone-binding globuline levels in RTHß. We found a significant reduction in amplitude of the cone (P = 0.024) and of the rod response (P = 0.006) in the ERG of RTHß patients compared with controls. The response of the L/M cones measured by a specialized ERG test was lower in RTHß than controls (P = 0.027), whereas no differences were found in the S-cone response. No correlations were found between TH levels, total error score, or electrophysiological results. Furthermore, no differences were found between patients with maternal or de novo/paternal inheritance. Conclusions: We report, to our knowledge, the first in vivo evidence of functional defects of RP in RTHß. These changes occur independently of endogenous TH levels or the prenatal exposure to high or normal maternal TH.
[Mh] Termos MeSH primário: Defeitos da Visão Cromática/diagnóstico
Células Fotorreceptoras de Vertebrados/patologia
Síndrome da Resistência aos Hormônios Tireóideos/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Visão de Cores/fisiologia
Eletrofisiologia
Eletrorretinografia/métodos
Feminino
Seres Humanos
Itália
Masculino
Meia-Idade
Valores de Referência
Estatísticas não Paramétricas
Centros de Atenção Terciária
Testes de Função Tireóidea
Tomografia de Coerência Óptica/métodos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-3671


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[PMID]:28358949
[Au] Autor:Orosz O; Rajta I; Vajas A; Takács L; Csutak A; Fodor M; Kolozsvári B; Resch M; Sényi K; Lesch B; Szabó V; Berta A; Balogh I; Losonczy G
[Ad] Endereço:Department of Ophthalmology, University of Debrecen, Debrecen, Hungary.
[Ti] Título:Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.
[So] Source:Invest Ophthalmol Vis Sci;58(3):1834-1842, 2017 Mar 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Rare interchange haplotypes in exon 3 of the OPN1LW and OPN1MW opsin genes cause X-linked myopia, color vision defect, and cone dysfunction. The severity of the disease varies on a broad scale from nonsyndromic high myopia to blue cone monochromatism. Here, we describe a new genotype-phenotype correlation attributed to rare exon 3 interchange haplotypes simultaneously present in the long- and middle-wavelength sensitive opsin genes (L- and M-opsin genes). Methods: A multigenerational family with X-linked high myopia and cone dystrophy was investigated. Results: Affected male patients had infantile onset myopia with normal visual acuity and color vision until their forties. Visual acuity decreased thereafter, along with the development of severe protan and deutan color vision defects. A mild decrease in electroretinography response of cone photoreceptors was detected in childhood, which further deteriorated in middle-aged patients. Rods were also affected, however, to a lesser extent than cones. Clinical exome sequencing identified the LVAVA and MVAVA toxic haplotypes in the OPN1LW and OPN1MW opsin genes, respectively. Conclusion: Here, we show that LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course. To the best of our knowledge, this is the first report on the joint effect of these toxic haplotypes in the two opsin genes on chromosome X.
[Mh] Termos MeSH primário: Cromossomos Humanos X/genética
Defeitos da Visão Cromática/genética
DNA/genética
Doenças Genéticas Ligadas ao Cromossomo X/genética
Miopia/genética
Células Fotorreceptoras Retinianas Bastonetes/patologia
Opsinas de Bastonetes/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Defeitos da Visão Cromática/diagnóstico
Defeitos da Visão Cromática/metabolismo
Progressão da Doença
Eletrorretinografia
Feminino
Estudos de Associação Genética
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico
Doenças Genéticas Ligadas ao Cromossomo X/metabolismo
Genótipo
Haplótipos
Seres Humanos
Masculino
Meia-Idade
Miopia/diagnóstico
Miopia/metabolismo
Linhagem
Fenótipo
Reação em Cadeia da Polimerase
Células Fotorreceptoras Retinianas Bastonetes/metabolismo
Opsinas de Bastonetes/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Rod Opsins); 0 (long-wavelength opsin); 0 (short-wavelength opsin); 9007-49-2 (DNA)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170331
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-21405


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[PMID]:28331120
[Au] Autor:Ochiai N; Kondo H
[Ad] Endereço:Department of Ophthalmology, School of Medicine, University of Occupational and Environmental Health, Japan.
[Ti] Título:Color Functionality Used in Visual Display for Occupational and Environmental Safety and Managing Color Vision Deficiency.
[So] Source:J UOEH;39(1):35-45, 2017.
[Is] ISSN:0387-821X
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:The effects of color perception are utilized in visual displays for the purpose of safety in the workplace and in daily life. These effects, generally known as color functionality, are divided into four classifications: visibility, legibility, conspicuity and discriminability. This article focuses on the relationship between the color functionality of color schemes used in visual displays for occupational and environmental safety and color vision deficiency (particularly congenital red-green color deficiency), a critical issue in ophthalmology, and examines the effects of color functionality on the perception of the color red in individuals with protan defects. Due to abrupt system reforms, current Japanese clinical ophthalmology finds itself in a situation where it is insufficiently prepared to handle congenital red-green color deficiencies. Indeed, occupational problems caused by color vision deficiencies have been almost completely neglected, and are an occupational safety and health concern that will need to be solved in the future. This report will present the guidelines for the color vision testing established by the British Health and Safety Executive (HSE), a pioneering example of a model meant to solve these problems. Issues relating to the creation of guidelines adapted to Japanese clinical ophthalmology will also be examined, and we will discuss ways to utilize color functionality used in visual displays for occupational and environmental safety to help manage color vision deficiency.
[Mh] Termos MeSH primário: Percepção de Cores/fisiologia
Defeitos da Visão Cromática
Visão de Cores/fisiologia
Cor
Meio Ambiente
Saúde do Trabalhador
Local de Trabalho
[Mh] Termos MeSH secundário: Defeitos da Visão Cromática/fisiopatologia
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171015
[Lr] Data última revisão:
171015
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.7888/juoeh.39.35


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[PMID]:28282490
[Au] Autor:Gootwine E; Abu-Siam M; Obolensky A; Rosov A; Honig H; Nitzan T; Shirak A; Ezra-Elia R; Yamin E; Banin E; Averbukh E; Hauswirth WW; Ofri R; Seroussi E
[Ad] Endereço:Agricultural Research Organization, The Volcani Center, Rishon LeZion, Israel.
[Ti] Título:Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.
[So] Source:Invest Ophthalmol Vis Sci;58(3):1577-1584, 2017 Mar 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Applying CNGA3 gene augmentation therapy to cure a novel causative mutation underlying achromatopsia (ACHM) in sheep. Methods: Impaired vision that spontaneously appeared in newborn lambs was characterized by behavioral, electroretinographic (ERG), and histologic techniques. Deep-sequencing reads of an affected lamb and an unaffected lamb were compared within conserved genomic regions orthologous to human genes involved in similar visual impairment. Observed nonsynonymous amino acid substitutions were classified by their deleteriousness score. The putative causative mutation was assessed by producing compound CNGA3 heterozygotes and applying gene augmentation therapy using the orthologous human cDNA. Results: Behavioral assessment revealed day blindness, and subsequent ERG examination showed attenuated photopic responses. Histologic and immunohistochemical examination of affected sheep eyes did not reveal degeneration, and cone photoreceptors expressing CNGA3 were present. Bioinformatics and sequencing analyses suggested a c.1618G>A, p.Gly540Ser substitution in the GMP-binding domain of CNGA3 as the causative mutation. This was confirmed by genetic concordance test and by genetic complementation experiment: All five compound CNGA3 heterozygotes, carrying both p.Arg236* and p.Gly540Ser mutations in CNGA3, were day-blind. Furthermore, subretinal delivery of the intact human CNGA3 gene using an adeno-associated viral vector (AAV) restored photopic vision in two affected p.Gly540Ser homozygous rams. Conclusions: The c.1618G>A, p.Gly540Ser substitution in CNGA3 was identified as the causative mutation for a novel form of ACHM in Awassi sheep. Gene augmentation therapy restored vision in the affected sheep. This novel mutation provides a large-animal model that is valid for most human CNGA3 ACHM patients; the majority of them carry missense rather than premature-termination mutations.
[Mh] Termos MeSH primário: Proteínas de Transporte/genética
Defeitos da Visão Cromática/terapia
Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética
DNA/genética
Terapia Genética/métodos
Peptídeos e Proteínas de Sinalização Intracelular/genética
Mutação
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Proteínas de Transporte/metabolismo
Defeitos da Visão Cromática/diagnóstico
Defeitos da Visão Cromática/genética
Canais de Cátion Regulados por Nucleotídeos Cíclicos/metabolismo
Análise Mutacional de DNA
Modelos Animais de Doenças
Eletrorretinografia
Feminino
Genótipo
Homozigoto
Imuno-Histoquímica
Peptídeos e Proteínas de Sinalização Intracelular/metabolismo
Masculino
Retina/fisiopatologia
Ovinos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNGA3 protein, human); 0 (Carrier Proteins); 0 (Cyclic Nucleotide-Gated Cation Channels); 0 (Intracellular Signaling Peptides and Proteins); 0 (cyclic GMP-binding protein); 9007-49-2 (DNA)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-20986



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