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Arq. neuropsiquiatr ; 80(2): 180-191, Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1364366


ABSTRACT Structural imaging of the brain is the most widely used diagnostic tool for investigating neurodegenerative diseases. More advanced structural imaging techniques have been applied to early or prodromic phases, but they are expensive and not widely available. Therefore, it is highly desirable to search for noninvasive, easily accessible, low-cost clinical biomarkers suitable for large-scale population screening, in order to focus on making diagnoses at the earliest stages of the disease. In this scenario, imaging studies focusing on the structures of the retina have increasingly been used for evaluating neurodegenerative diseases. The retina shares embryological, histological, biochemical, microvascular and neurotransmitter similarities with the cerebral cortex, thus making it a uniquely promising biomarker for neurodegenerative diseases. Optical coherence tomography is a modern noninvasive imaging technique that provides high-resolution two-dimensional cross-sectional images and quantitative reproducible three-dimensional volumetric measurements of the optic nerve head and retina. This technology is widely used in ophthalmology practice for diagnosing and following up several eye diseases, such as glaucoma, diabetic retinopathy and age-related macular degeneration. Its clinical impact on neurodegenerative diseases has raised enormous interest over recent years, as several clinical studies have demonstrated that these diseases give rise to reduced thickness of the inner retinal nerve fiber layer, mainly composed of retinal ganglion cells and their axons. In this review, we aimed to address the clinical utility of optical coherence tomography for diagnosing and evaluating different neurodegenerative diseases, to show the potential of this noninvasive and easily accessible method.

RESUMO A avaliação estrutural do cérebro, feita por meio dos exames de neuroimagem, é a forma mais utilizada de ferramenta diagnóstica e de acompanhamento das doenças neurodegenerativas. Técnicas de imagem mais sofisticadas podem ser necessárias especialmente nas fases mais precoces, antes mesmo do surgimento de quaisquer sintomas, porém costumam ser caras e pouco acessíveis. Sendo assim, é de fundamental importância a busca de biomarcadores não invasivos, de fácil acesso e baixo custo, que possam ser utilizados para rastreio populacional e diagnóstico mais precoce. Nesse cenário, o número de estudos com ênfase em técnicas de imagem para avaliação estrutural da retina em pacientes com doenças neurodegenerativas tem aumentado nos últimos anos. A retina apresenta similaridade embriológica, histológica, bioquímica, microvascular e neurotransmissora com o córtex cerebral, tornando-se assim um biomarcador único e promissor nas doenças neurodegenerativas. A tomografia de coerência óptica é uma moderna técnica de imagem não invasiva que gera imagens seccionais bidimensionais de alta resolução e medidas volumétricas tridimensionais reprodutivas do disco óptico e da mácula. Essa tecnologia é amplamente utilizada na prática oftalmológica para o diagnóstico e o seguimento de diversas doenças oculares, como glaucoma, retinopatia diabética e degeneração macular relacionada à idade. A redução da espessura da camada de fibras nervosas da retina e das camadas de células ganglionares em pacientes com doenças neurodegenerativas foi demonstrada em diversos estudos clínicos nos últimos anos. Nesta revisão, abordamos as principais aplicações clínicas da tomografia de coerência óptica nas doenças neurodegenerativas e discutimos o seu papel como potencial biomarcador nessas afecções.

Humans , Neurodegenerative Diseases/pathology , Neurodegenerative Diseases/diagnostic imaging , Tomography, Optical Coherence/methods , Retina/pathology , Retina/diagnostic imaging
Article in Chinese | WPRIM | ID: wpr-936323


OBJECTIVE@#To investigate the the effects of leptin on the proliferation, differentiation and PTEN expression of rat retinal progenitor cells (RPCs) cultured under hypoxic condition.@*METHODS@#SD rat RPCs were cultured in normoxic conditions or exposed to hypoxia in the presence of 0, 0.3, 1.0, 3.0, 10, and 30 nmol/L leptin for 12, 48 and 72 h, and the cell viability was assessed using cell counting kit 8 (CCK 8) assay. The RPCs in primary culture were divided into control group, hypoxia group, and hypoxia+leptin group, and after 48 h of culture, the cell medium was replaced with differentiation medium and the cells were further cultured for 6 days. Immunofluorescence staining was employed to detect the cells positive for β-tubulin III and GFAP, and Western blotting was used to examine the expression of PTEN at 48 h of cell culture.@*RESULTS@#The first generation of RPCs showed suspended growth in the medium with abundant and bright cellular plasma and formed mulberry like cell spheres after 2 days of culture. Treatment with low-dose leptin (below 3.0 nmol/L) for 48 h obviously improved the viability of RPCs cultured in hypoxia, while at high concentrations (above 10 nmol/L), leptin significantly suppressed the cell viability (P < 0.05). The cells treated with 3.0 nmol/L leptin for 48 h showed the highest viability (P < 0.05). After treatment with 3.0 nmol/L leptin for 48 h, the cells with hypoxic exposure showed similar GFAP and β-tubulin Ⅲ positivity with the control cells (P>0.05), but exhibited an obvious down-regulation of PTEN protein expression compared with the control cells (P < 0.05).@*CONCLUSION@#In rat RPCs with hypoxic exposure, treatment with low dose leptin can promote the cell proliferation and suppress cellular PTEN protein expression without causing significant effects on cell differentiation.

Animals , Cell Differentiation/drug effects , Cell Hypoxia/drug effects , Cell Proliferation/drug effects , Cells, Cultured , Leptin/pharmacology , PTEN Phosphohydrolase/metabolism , Rats , Rats, Sprague-Dawley , Retina/metabolism , Stem Cells/metabolism , Tubulin
Article in Chinese | WPRIM | ID: wpr-927371


OBJECTIVE@#To observe the effect of acupuncture on visual acuity, intraocular pressure, visual field, retinal and choroidal thickness on optic disc and macular area in patients with optic atrophy.@*METHODS@#A total of 33 patients with optic atrophy were treated with acupuncture. Acupuncture was given at Chengqi (ST 1), Shangjingming (Extra), Qiuhou (EX-HN 7) and Fengchi (GB 20) etc., 30 min each time, once a day, for 14 days. The visual acuity, intraocular pressure, visual field indexes (mean deviation [MD], pattern standard deviation [PSD] and visual field index [VFI]), optic disc retinal nerve fiber layer thickness, macular retinal thickness and choroidal thickness of optic disc and sub-foveal were compared before and after treatment.@*RESULTS@#Compared before treatment, the visual acuity was increased (P<0.05), the MD value was decreased (P<0.05), the thickness of nerve fiber layer on the upper temporal side of optic disc was thinner (P<0.05), and the choroidal thickness of average, nasal side and lower temporal side of optic disc was increased (P<0.05). There was significant correlation between visual field MD and retinal nerve fiber layer thickness in different quadrants before and after treatment (P<0.01).@*CONCLUSION@#Acupuncture could improve visual acuity, increase choroidal thickness in part of optic disc area in patients with optic atrophy.

Acupuncture Therapy , Humans , Optic Atrophy/therapy , Optic Disk/diagnostic imaging , Retina/diagnostic imaging , Tomography, Optical Coherence
Rev. bras. oftalmol ; 81: e0060, 2022. tab, graf
Article in English | LILACS | ID: biblio-1407680


ABSTRACT Purpose To evaluate the retinal blood vascular network of the retinographies of patients with different grades of diabetic retinopathy. Methods Ninety Retinographies (MESSIDOR database) were used, with different grades of diabetic retinopathy divided into 4 groups: no retinopathy (n=23), grade one (n=20), grade two (n=20) and grade three (n=27) diabetic retinopathy. The grades of diabetic retinopathy were classified according to the number of microaneurysms, number of hemorrhages and the presence of neovascularization. The images were skeletonized and quantified by fractal methods: dimension of box-counting (Dbc) and information (Dinf). Results The means of Dbc values of groups were around 1.25, without statistically significant difference in the dimension values between groups for whole retina. There was also no statistical difference in Dinf values between groups, whose means ranged between 1.294 ± 0.013 (group of grade 1) and 1.3 ± 0.017 (group of grade 3). The retinographies were divided into regions of equal areas. The fractal values of some retinal regions showed statistical differences, but these differences were not enough to show the sensitivity of fractal methods in identifying diabetic retinopathy. Conclusion The fractal methods were not able to identify the different grades of diabetic retinopathy in retinographies.

RESUMO Objetivo Avaliar a rede vascular sanguínea da retina a partir de retinografias de pacientes com diferentes graus de retinopatia diabética. Métodos Foram utilizadas 90 retinografias (banco de dados MESSIDOR), com diferentes graus de retinopatia diabética divididas em quatro grupos: sem retinopatia (n=23), retinopatia diabética de grau um (n=20), grau dois (n=20) e grau três (n=27). Os graus de retinopatia foram classificados conforme o número de microaneurismas, número de hemorragias e presença de neovascularização. As imagens foram esqueletizadas e quantificadas pelos métodos fractais: dimensão da contagem de caixas e informação. Resultados As médias dos valores das dimensões de contagem de caixas para todos os grupos foram próximas a 1,25, sem diferença estatisticamente significativa nos valores das dimensões entre os grupos para retina inteira. Também não houve diferença estatística nos valores da dimensão de informação entre os grupos, cujas médias variaram entre 1,294 ± 0,013 (grupo do grau 1) e 1,3 ± 0,017 (grupo do grau 3). As imagens retinianas foram divididas em regiões de áreas iguais. Os valores fractais de algumas regiões retinais mostraram diferenças estatísticas, mas estas não foram suficientes para mostrar a sensibilidade dos métodos fractais na identificação da retinopatia diabética. Conclusão Os métodos fractais não foram capazes de identificar os diferentes graus de retinopatia diabética em retinografias.

Humans , Retinal Vessels/diagnostic imaging , Image Processing, Computer-Assisted , Fractals , Diabetic Retinopathy/diagnostic imaging , Retina/pathology , Retina/diagnostic imaging , Retinal Vessels/pathology , Diabetic Retinopathy/pathology , Diagnostic Techniques, Ophthalmological
Rev. bras. oftalmol ; 81: e0053, 2022.
Article in Portuguese | LILACS | ID: biblio-1387968
Rev. bras. oftalmol ; 81: e0056, 2022. tab, graf
Article in English | LILACS | ID: biblio-1394863


ABSTRACT It is part of the omic sciences to search for an understanding of how the cellular system of organisms works as well as studying their biological changes. As part of the omic sciences, we can highlight the genomics whose function is the study of genes, the transcriptomics that studies the changes in the transcripts, the proteomics responsible for understanding the changes that occur in proteins, and the metabolomics that studies all the metabolic changes that occur in a certain system when it is submitted to different types of stimuli. Metabolomics is the science that studies the endogenous and exogenous metabolites in biological systems, which aims to provide comparative quantitative or semi-quantitative information about all metabolites in the system. This review aims to describe the main applications of metabolomics science in ophthalmolog. We searched the literature on main applications of metabolomics science in ophthalmology, using the MEDLINE and LILACS databases, with the keywords "metabolomics" and "ophthalmology", from January 1, 2009, to April 5, 2021. We retrieved 216 references, of which 58 were considered eligible for intensive review and critical analysis. The study of the metabolome allows a better understanding of the metabolism of ocular tissues. The results are important to aid diagnosis and as predictors of the progression of many eye and systemic diseases.

RESUMO Faz parte das ciências ômicas buscar entender como funciona o sistema celular dos organismos e estudar suas alterações biológicas. Como parte das ciências ômicas, destacam-se a genômica, cuja função é o estudo dos genes; a transcriptômica, que estuda as mudanças nos transcritos; a proteômica, responsável por entender as mudanças que ocorrem nas proteínas, e a metabolômica, que estuda todo o metabolismo das alterações que ocorrem em um determinado sistema quando ele é submetido a diferentes tipos de estímulos. A metabolômica é a ciência que estuda os metabólitos endógenos e exógenos em sistemas biológicos, visando fornecer informações comparativas quantitativas ou semiquantitativas sobre todos os metabólitos do sistema. Esta revisão teve como objetivo descrever as principais aplicações da ciência metabolômica na oftalmologia. Trata-se de revisão narrativa desenvolvida por um grupo de pesquisa da Universidade Federal de São Paulo, em São Paulo (SP). Buscaram-se, na literatura, as principais aplicações da ciência metabolômica em oftalmologia, utilizando as bases de dados Medline® e Lilacs, com as palavras-chave "metabolomics" e "oftalmologia", de 1º de janeiro de 2009 a 5 de abril de 2021. Foram recuperadas 216 referências, das quais 58 foram consideradas elegíveis para revisão intensiva e análise crítica. O estudo do metaboloma permite um melhor entendimento do metabolismo dos tecidos oculares. Os resultados são importantes para auxiliar no diagnóstico e como preditores da progressão de muitas doenças oculares e sistêmicas.

Humans , Eye Diseases/metabolism , Metabolome/physiology , Retina/metabolism , Artificial Intelligence , Biomarkers/metabolism , Cornea/metabolism , Eye Diseases/diagnosis , Metabolomics/methods , Machine Learning
Rev. bras. oftalmol ; 81: e0057, 2022. tab, graf
Article in Portuguese | LILACS | ID: biblio-1394860


RESUMO Objetivo Avaliar o impacto da triagem de retinopatia diabética de paciente diabéticos realizada com retinografia colorida. Métodos Estudo retrospectivo, de caráter descritivo, avaliando laudos de retinografias realizadas desde a implementação do protocolo da triagem de retinopatia diabética de paciente diabéticos acompanhados no Ambulatório de Endocrinologia de um hospital terciário do Sistema Único de Saúde, de maio de 2018 até maio de 2020. Resultados Realizaram retinografia 727 pacientes diabéticos, que tinham entre 14 e 91 anos, sendo a maioria com 60 anos ou mais (53,2%), do sexo feminino (68%) e brancos (87,6%). Não apresentavam retinopatia diabética 467 (64,2%) pacientes, 125 (17,2%) tinham retinopatia diabética não proliferativa, 37 (5,1%) retinopatia diabética não proliferativa grave e/ou suspeita de edema macular, 65 (8,9%) retinopatia diabética proliferativa, 21 (2,9%) suspeita de outras patologias, e as imagens de 12 (1,7%) pacientes eram insatisfatórias. Foram considerados de alto risco (aqueles com retinopatia diabética não proliferativa grave e/ou edema macular, retinopatia diabética proliferativa ou imagem insatisfatória) 114 (15,68%) pacientes. Conclusão O rastreio de retinopatia diabética com retinografia colorida possibilitou a detecção de pacientes diabéticos de alto risco que necessitavam atendimento com brevidade, permitindo o acesso deles à consulta oftalmológica e diminuindo a morbidade da doença relacionada ao tratamento tardio. Os demais foram encaminhados à Atenção Primária para regulamentação, por meio do Sistema de Regulação.

ABSTRACT Objective To evaluate the impact of diabetic retinopathy (DR) screening using color retinography in diabetic patients. Methods Retrospective descriptive study, evaluating reports of all retinographs performed since the implementation of the protocol for screening for diabetic retinopathy in diabetic patients followed up at the endocrinology outpatient clinic of a tertiary hospital of the Unified Health System, from May 2018 to May 2020. Results 727 diabetic with age range from 14 to 91 years old, the majority being 60 years old or older (53.2%), female (68%) and white (87.6%), patients underwent retinography. Of the patients, 467 (64.2%) did not have DR, 125 (17.2%) had non-proliferative DR, 37 (5.1%) had severe non-proliferative DR and/or suspected macular edema, 65 (8.9%) had proliferative DR, 21 (2.9%) had suspicion signs of other pathologies and 12 (1.7%) had unsatisfactory images. A total of 114 (15.68%) patients were considered at high risk (those with severe non-proliferative NP and/or EM, proliferative DR or poor image) and were referred for comprehensive ophthalmic evaluation. Conclusion The screening of RD with color retinography enabled the detection of high-risk diabetic patients who needed assistance sooner and enabled their access to ophthalmologic consultation, which decreased disease morbidity. The others were referred to primary care for regulation through the Regulation System (SISREG).

Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Retina/diagnostic imaging , Photography/methods , Diabetic Retinopathy/diagnostic imaging , Diagnostic Techniques, Ophthalmological , Unified Health System , Mydriasis/chemically induced , Retrospective Studies , Color , Diabetes Complications , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 2/complications , Diabetic Retinopathy/etiology , Diabetic Retinopathy/epidemiology , Tertiary Care Centers , Diagnostic Screening Programs , Fundus Oculi , Hospitals, Public
Rev. bras. oftalmol ; 81: e0020, 2022. graf
Article in Portuguese | LILACS | ID: biblio-1365724


RESUMO O lúpus eritematoso sistêmico é uma doença que pode apresentar comprometimento oftalmológico geralmente benigno, sendo as alterações mais encontradas a síndrome do olho seco e a catarata. Nos pacientes com a doença estável, o dano oftalmológico parece estar relacionado ao tratamento sistêmico a longo prazo, o que enfatiza a importância do exame oftalmológico completo de rotina. Porém, quando a doença está em franca atividade e, em especial, quando há o envolvimento renal, deve-se iniciar o tratamento precoce com corticoterapia sistêmica e com medidas de suporte, para se evitarem repercussões mais complexas, como as crises hipertensivas que podem levar ao óbito.

ABSTRACT Systemic lupus erythematosus may present ophthalmological involvement, usually benign, and the most common changes are dry eye syndrome and cataract. In patients with stable disease, ophthalmologic damage appears to be related to long-term systemic treatment, emphasizing the importance of routine complete ophthalmologic examination. However, in full-blown disease, especially when there is renal involvement, early treatment should start with systemic steroid therapy and supportive measures, to avoid major repercussions, such as hypertensive crises that may lead to death.

Humans , Female , Adolescent , Hypertensive Retinopathy/etiology , Hypertension, Malignant/complications , Lupus Erythematosus, Systemic/complications , Ophthalmoscopy , Retina/diagnostic imaging , Prednisone/administration & dosage , Visual Acuity , Pulse Therapy, Drug , Hypertensive Retinopathy/diagnosis , Hypertensive Retinopathy/drug therapy , Slit Lamp Microscopy , Fundus Oculi , Hypertension/complications , Hypertension/etiology , Hypertension, Malignant/etiology
Rev. bras. oftalmol ; 81: e0027, 2022. tab, graf
Article in English | LILACS | ID: biblio-1376789


ABSTRACT The objective of this article was to review the disorganization of inner retinal layers as a biomarker in diabetic macular edema. A systematic search was conducted in PubMed®/MEDLINE®, Cochrane and Embase until August 2021. The keywords used were: "disorganization of inner retinal layers (DRIL)", "diabetic macular edema (DME)" and "biomarkers". No restrictions were imposed on the types of study to be included. The studies selected for eligibility were those that included the diagnosis of diabetic macular edema (center involved, resolved), that were well documented with spectral domain optical coherence tomography, that included disorganization of inner retinal layers as one of the reported alterations, with a follow-up of at least 3 months, and those in which the best corrected visual acuity was evaluated pre and post. There were no limitations regarding the type of treatment established. References of identified studies were searched for additional relevant articles. Articles not published in peer review journals were excluded. All studies were evaluated by two investigators independently. When one of them was in doubt, it was assessed by a third evaluator. A total of seven studies were included. Four were retrospective, longitudinal cohort study and three cross-sectional observational. Regarding the population studied, 61.5% were men and 38.4% were women, most of them had diabetes mellitus type 2 (85.8%). Regarding the stage of diabetes, the percentage of patients with mild nonproliferative diabetic retinopathy was 28.2%, with moderate nonproliferative diabetic retinopathy was 28.5%, with severe nonproliferative diabetic retinopathy was 15.9% and with nonproliferative diabetic retinopathy was 27.4%. In 100% of the studies, the diagnosis of diabetic macular edema in the center involved was included by spectral domain optical coherence tomography (Heidelberg). In all the studies, the presence of disorganization of inner retinal layers was recorded and its association with best corrected visual acuity was evaluated. The measurement was carried out using the LogMAR scale. In all the studies, the presence or absence of disorganization of inner retinal layers was associated with the best corrected worse/better final visual acuity using p <0.05 as a statical significance. The disorganization of inner retinal layers as a biomarker and their presence have shown to be important predictors of visual acuity in the future in patients with diabetic macular edema. Histopathological studies are required to understand its mechanism of action.

RESUMO O objetivo deste artigo foi revisar sobre a desorganização das camadas internas da retina como biomarcador no edema macular diabético. Uma busca sistemática foi realizada no PubMed®/MEDLINE®, Cochrane e Embase até agosto de 2021. As palavras-chave utilizadas foram "disorganization of inner retinal layers (DRIL)", "diabetic macular edema (DME)" e "biomarkers". Não foram impostas restrições quanto aos tipos de estudo a serem incluídos. Os estudos selecionados para elegibilidade foram aqueles que incluíram o diagnóstico de edema macular diabético (centro envolvido, resolvido), que foram bem documentados com tomografia de coerência óptica de domínio espectral, que incluíram a desorganização das camadas internas da retina como uma das alterações relatadas, com acompanhamento de pelo menos 3 meses, e aqueles em que a melhor acuidade visual corrigida foi avaliada pré e pós. Não houve limitações quanto ao tipo de tratamento estabelecido. Referências de estudos identificados foram pesquisadas para artigos relevantes adicionais. Foram excluídos os artigos não publicados em revistas de revisão por pares. Todos os estudos foram avaliados por dois investigadores de forma independente. Quando havia dúvida com algum deles, a mesma era avaliada por um terceiro avaliador. Um total de sete estudos foram incluídos. Quatro eram estudos de coorte retrospectivos longitudinais e três eram observacionais transversais. Em relação à população estudada, a proporção de homens foi de 61,5% e de mulheres, 38,4%, a maioria com diabetes mellitus tipo 2 (85,8%). Em relação ao estágio do diabetes, o percentual de pacientes com retinopatia diabética não proliferativa leve foi de 28,2%, retinopatia diabética não proliferativa moderada foi de 28,5%, de retinopatia diabética não proliferativa grave foi de 15,9% e de retinopatia diabética não proliferativa foi de 27,4%. Em 100% dos estudos, o diagnóstico de edema macular diabético no centro envolvido foi incluído pela tomografia de coerência óptica de domínio espectral (Heidelberg). Em todos os estudos, foi registrada a presença de desorganização das camadas internas da retina e avaliada sua associação com a melhor acuidade visual corrigida. A medição foi realizada usando a escala LogMAR. Em todos os estudos, a presença ou ausência de desorganização das camadas internas da retina foi associada a pior/melhor acuidade visual final melhor corrigida usando p<0,05 como significância estática. A desorganização das camadas internas da retina como biomarcador e sua presença têm se mostrado importantes como preditor da acuidade visual no futuro em pacientes com edema macular diabético. Estudos histopatológicos são necessários para entender seu mecanismo de ação.

Humans , Male , Female , Retina/pathology , Biomarkers , Macular Edema/physiopathology , Tomography, Optical Coherence , Diabetes Mellitus, Type 2/complications , Diabetic Retinopathy/physiopathology , Vision Disorders/physiopathology , Retinal Vein Occlusion/physiopathology , Visual Acuity/physiology , Diabetes Complications , Systematic Review
Rev. bras. oftalmol ; 81: e0026, 2022. graf
Article in English | LILACS | ID: biblio-1376786


ABSTRACT Purpose: To describe an innovative animal model of eye transplantation used in rabbits. Methods: six Dutch-belted male rabbits were submitted to lateral orbitotomy in the right eye, wide retrobulbar anatomy exposure, dissection of the structures, identification and distal section of the optic nerve followed by anastomosis either by vicryl (group 1) or fibrin glue (group 2). Electroretinography recording was performed before the section of the optic nerve and every 30 seconds after, to monitor the function of retina. Left eye was used as control group. Results: After optic nerve resection and anastomosis, stable ERG amplitude of the right eye was lost after 302 seconds in group 1 and after 296 seconds on group 2. Left eye kept longer stable ERG amplitude curves. Conclusions: The animal model of whole eye transplantation was effective in describing a novel technique to be used in rabbits, with success of the anatomic procedure. Further studies will clarify the best anastomosis methods and maintenance of function of the receptor organ. Translational relevance: this animal model of whole eye transplantation provides a novel perspective for blind patients and the research models, since we describe a novel mammal animal model. This model can be used as basis of a human model of whole eye transplantation in future studies.

RESUMO Objetivo: Descrever uma técnica cirúrgica inovadora para transplante de olho em um modelo animal em coelhos. Métodos: Seis coelhos machos com Dutch Belted foram submetidos à orbitotomia lateral do olho direito, com ampla exposição da anatomia retrobulbar, dissecção do cone muscular, exposição e secção distal do nervo óptico seguida de anastomose por vicryl (Grupo 1) ou cola de fibrina (Grupo 2). O registro da eletrorretinografia foi realizado antes da secção do nervo óptico e a cada 30 segundos após, para monitorar a função da retina. O olho esquerdo foi usado como grupo controle. Resultados: Após a ressecção do nervo óptico, a estabilidade da amplitude da eletrorretinografia foi perdida no olho direito após 302 segundos no Grupo 1 e após 296 segundos no Grupo 2. O olho esquerdo manteve eletrorretinografia estável por períodos mais longos. Conclusão: O modelo animal de transplante total de olho foi eficaz em descrever uma nova técnica cirúrgica para ser utilizada em laboratório com coelhos, com sucesso do procedimento anatômico. Novos estudos esclarecerão os melhores métodos de anastomose e manutenção da função do órgão receptor.

Animals , Male , Optic Nerve/surgery , Retina/physiology , Electroretinography , Eye/transplantation , Orbit/surgery , Rabbits , Retinal Ganglion Cells/physiology , Anastomosis, Surgical , Eye Enucleation , Models, Animal , Slit Lamp Microscopy
Rev. bras. oftalmol ; 81: e0103, 2022. graf
Article in English | LILACS | ID: biblio-1407672


ABSTRACT Optical coherence tomography is often used for detection of glaucoma as well as to monitor progression. This paper reviews the most common types of artifacts on the optical coherence tomography report that may be confused with glaucomatous damage. We mainly focus on anatomy-related artifacts in which the retinal layer segmentation and thickness measurements are correct. In such cases, the probability maps (also known as deviation maps) show abnormal (red and yellow) regions, which may mislead the clinician to assume disease is present. This is due to the anatomic variability of the individual, and the normative database must be taken into account.

RESUMO A tomografia de coerência óptica é frequentemente usada para detectar glaucoma, bem como para monitorar a progressão. Este artigo analisa os tipos mais comuns de artefatos no relatório de tomografia de coerência óptica que podem ser confundidos com danos glaucomatosos. Nós nos concentramos principalmente nos artefatos relacionados à anatomia em que a segmentação da camada da retina e as medidas de espessura estão corretas. Nesses casos, os mapas de probabilidade (também conhecidos como mapas de desvio) mostram regiões anormais (vermelho e amarelo), o que pode induzir o clínico em erro ao supor que a doença está presente. Isto se deve à variabilidade anatômica do indivíduo, e o banco de dados normativo deve ser levado em conta.

Humans , Glaucoma/diagnostic imaging , Artifacts , Tomography, Optical Coherence/methods , Posture , Retina/diagnostic imaging , Torsion Abnormality , Head Movements , Diagnostic Errors , Eye Movements , Fovea Centralis , Nerve Fibers/pathology
Biomédica (Bogotá) ; 41(3): 388-395, jul.-set. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1345389


Resumen La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.

Abstract The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with macular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.

Retinal Dystrophies , Retina , Retinal Pigment Epithelium , Macular Degeneration
Arq. bras. oftalmol ; 84(3): 225-229, May-June 2021. tab
Article in English | LILACS | ID: biblio-1248976


ABSTRACT Purpose: This study was conducted to evaluate visual function and changes in the central macular thickness of patients with unresponsive neovascular age-related macular degeneration who were switched from ranibizumab (Lucentis®) to aflibercept (Eylea®) treatment at 30 months. Methods: This retrospective study examined patients with neovascular age-related macular degeneration who were switched to aflibercept after ≥6 previous intravitreal ranibizumab injections at 4- to 8-week intervals. All patients were switched to intravitreal aflibercept (2.0 mg) and analyzed after 3 consecutive injections followed by a prore nata dosing regimen and after 30 months of treatment. Best corrected visual acuity, biomicroscopic examination, intraocular pressure, fundus examination, and central macular thickness were recorded at the start of treatment, before the transition to intravitreal aflibercept treatment, and at 6, 12, 18, 24, and 30 months of intravitreal aflibercept treatment. Results: A total of 33 eyes met the inclusion criteria. The median age of the patients was 73.57 ± 7.98 years, and 21 (61.8%) patients were males and 12 (35.3%) were females. Before the transition, the patients received a mean of 16.8 ± 8.8 ranibizumab injections (range 6-38).After the transition to intravitreal aflibercept treatment, the mean number of aflibercept injections was 9.09 ± 3.94. No significant differences were observed in best corrected visual acuity after the aflibercept switch in any of the months. The central macular thickness was significantly decreased at 6, 12, 18, and 30 months (p=0.01, p=0.03, p=0.05, p=0.05, p<0.001, respectively). Conclusion: Patients with neovascular age-related macular degeneration who were switched to intravitreal aflibercept treatment due to unresponsiveness to intravitreal ranibizumab exhibited a significant anatomic improvement in the retina, and although this state persisted, there was no significant functional gain.(AU)

RESUMO Objetivo: Avaliar, depois de 30 meses, a função visual e as alterações na espessura macular central de pacientes com degeneração macular relacionada à idade sem resposta terapêutica ao ranibizumabe (Lucentis®) que mudaram seu tratamento para o aflibercepte (Eylea®). Métodos: Realizou-se um estudo retrospectivo de pacientes com degeneração macular neovascular relacionada à idade que mudaram o tratamento para o aflibercepte após 6 ou mais injeções intravítreas de ranibizumabe a intervalos de 4-8 semanas. Todos os pacientes mudaram para o aflibercepte intravítreo (2,0 mg) e depois de 3 injeções consecutivas, seguidas de um regime de dosagem pro re nata, foram avaliados após 30 meses de tratamento. A melhor acuidade visual corrigida, o exame biomicroscópico, a pressão intraocular, a fundoscopia e a espessura macular central foram registrados no início do tratamento, antes da transição para o tratamento com aflibercepte intravítreo e aos 6, 12, 18, 24 e 30 meses de tratamento com o aflibercepte intravítreo. Resultados: Satisfizeram aos critérios de inclusão 33 olhos. A mediana da idade dos pacientes foi de 73,57 ± 7,98 anos. Dos pacientes, 21 (61,8%) eram homens e 12 (35,3%) eram mulheres. Antes da transição para o tratamento com o aflibercepte intravítreo, os pacientes receberam em média 16,8 ± 8,8 injeções de ranibizumabe (faixa 6-38).Depois da transição, o número médio de injeções de aflibercepte foi de 9,09 ± 3,94. Não houve diferenças significativas na melhor acuidade visual corrigida depois da mudança para o aflibercepte em qualquer das avaliações. Houve diminuição significativa da espessura macular central aos 6, 12, 18 e 30 meses (respectivamente, p=0,01, p=0,03, p=0,05, p=0,05 e p<0,001). Conclusão: Pacientes com degeneração macular neovascular relacionada à idade que mudaram seu tratamento para o aflibercepte intravítreo devido à falta de resposta ao ranibizumabe intravítreo, tiveram melhora anatômica significativa da retina; mas embora esse estado tenha persistido, não foi observado nenhum ganho funcional significativo.(AU)

Humans , Retina/pathology , Visual Acuity , Angiogenesis Inhibitors/therapeutic use , Ranibizumab/therapeutic use , Macular Degeneration/physiopathology , Retrospective Studies
Rev. bras. oftalmol ; 80(1): 33-41, jan.-fev. 2021. graf
Article in Portuguese | LILACS | ID: biblio-1251314


RESUMO A Leucemia Linfocitica Aguda (LLA) é uma doença caracterizada por uma alta taxa de sobrevida, porém o número absoluto de crianças que morrem por ela representa uma grande parcela dos casos de óbitos infantis por câncer. A morbidade decorrente de seu tratamento pode deixar sequelas em pessoas com grande expectativa de vida, tornando-se extremamente necessário o entendimento da patogênese desta doença, possibilitando o desenvolvimento de novos tratamentos e diminuição de sequelas provocadas pela doença. O diagnóstico precoce é importante para se evitar complicações oculares que possam levar a baixa de acuidade visual em longo prazo e para avaliação de recaídas de tratamento sendo determinante no direcionamento de condutas.

ABSTRACT The Acute Lymphocytic Leukemia (ALL) is a disease characterized by a high survival rate, but the absolute number of children who die from it represents a large proportion of cases of infant deaths from cancer. The morbidity resulting from its treatment can leave sequelae in people with high life expectancy, making it extremely necessary to understand the pathogenesis of this disease, enabling the development of new treatments and reduction of sequelae caused by the disease. This early diagnosis is important to avoid ocular complications that may lead to low long-term visual acuity and to evaluate treatment relapses and determine the conducts.

Humans , Male , Child , Prognosis , Retina/pathology , Leukemic Infiltration , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis
Article in Chinese | WPRIM | ID: wpr-922026


OBJECTIVE@#To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome.@*METHODS@#Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR).@*RESULTS@#WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping.@*CONCLUSION@#The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.

Abnormalities, Multiple/genetics , Cerebellum/abnormalities , Eye Abnormalities , Female , Genotype , Humans , Kidney Diseases, Cystic , Mutation , Pedigree , Phenotype , Pregnancy , Retina/abnormalities
Article in Chinese | WPRIM | ID: wpr-921951


OBJECTIVE@#To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis.@*METHODS@#Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.

Abnormalities, Multiple/genetics , Cerebellum/diagnostic imaging , Eye Abnormalities/genetics , Female , Fetus , Humans , Kidney Diseases, Cystic , Mutation , Phenotype , Pregnancy , Retina/abnormalities
Acta Physiologica Sinica ; (6): 999-1016, 2021.
Article in Chinese | WPRIM | ID: wpr-921305


Cellular primary cilium, located on the surface of virtually all mammalian cells, is a strictly conserved organelle which regulates cell biological process and maintains cell homeostasis by modulating cell proliferation, differentiation, migration, polarity, signal cascades and other life activities. Some diseases caused by mutations in genes encoding structural proteins or accessory proteins of primary cilia are collectively termed as "ciliopathies", which can occur in embryo, infancy and even adulthood. Ciliopathies not only involve a single organ, but also involve multiple organs and multiple systems, showing variable symptoms and overlapping symptoms. This review mainly summarizes the effects of ciliopathy-associated gene mutations on bone, tooth, skin, liver and bile duct, kidney, brain, retina, heart and other organs, uncovers their molecular mechanisms and provides some novel insights into therapy of ciliopathies.

Adult , Animals , Cilia , Ciliopathies/genetics , Humans , Proteins , Retina , Signal Transduction
Article in Chinese | WPRIM | ID: wpr-887476


OBJECTIVE@#To observe the effect of acupoint thread@*METHODS@#A total of 60 children with refractive amblyopia were randomized into an observation group (30 cases, 2 cases dropped off) and a control group (30 cases, 1 case dropped off). In the control group, comprehensive therapy of eye covering of intact side and family refined performance was adopted. On the basis of the treatment in the control group, acupoint thread@*RESULTS@#After treatment, the corrected vision was increased compared before treatment in the both groups (@*CONCLUSION@#Acupoint thread

Acupuncture Points , Amblyopia/therapy , Child , Humans , Retina , Vision, Ocular , Visual Acuity