Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical data and genetic characteristics of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferritinemia cataract syndrome (HHCS).@*METHODS@#A child who was admitted to the PICU of the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the child was collected. Genetic testing was carried out for the child, and the result was analyzed in the light of literature review to explore the clinical and genetic characteristics to facilitate early identification.@*RESULTS@#The patient, a 3-year-old male, had mainly presented with visual impairment, progressive cognitive and motor regression, and epilepsy. Cranial magnetic resonance imaging revealed deepened sulci in bilateral cerebral hemispheres, and delayed myelination. The activity of palmitoyl protein thioesterase was low (8.4 nmol/g/min, reference range: 132.2 ~ 301.4 nmol/g/min), whilst serum ferritin was increased (2417.70 ng/mL, reference range: 30 ~ 400 ng/ml). Fundoscopy has revealed retinal pigment degeneration. Whole exome sequencing revealed that he has harbored c.280A>C and c.124-124+3delG compound heterozygous variants of the PPT1 gene, which were respectively inherited from his father and mother. Neither variant has been reported previously. The child has also harbored a heterozygous c.-160A>G variant of the FTL gene, which was inherited from his father. Based on the clinical phenotype and results of genetic testing, the child was diagnosed as CLN1 and HHCS.@*CONCLUSION@#The compound heterozygous variants of the PPT1 gene probably underlay the disorders in this child. For children with CLN1 and rapidly progressing visual impairment, ophthalmological examination should be recommended, and detailed family history should be taken For those suspected for HHCS, genetic testing should be performed to confirm the diagnosis.

Síndrome de Balint y trombosis de senos venosos cerebrales: reporte de caso / Balint syndrome and cerebral venous sinus thrombosis: Case report

Introducción: El síndrome de Balint es un trastorno neurológico infrecuente, de etiología diversa, cuya presentación incluye la triada clásica de: simultagnosia, ataxia óptica y apraxia oculomotora, síntomas secundarios asociados a lesiones parieto-occipitales, con pronóstico variable según la etiología que se encuentre. A continuación, se reporta un caso secundario a una trombosis de senos venosos. Presentación del caso: Mujer de 66 años que ingresa a urgencias por cefalea aguda asociada a síntomas neurológicos progresivos con compromiso visual. Presentó tensión arterial elevada, simultagnosia, ataxia óptica y apraxia oculomotora. Los estudios imagenológicos reportaron hemorragia subaracnoidea por trombosis de seno sigmoideo izquierdo, por lo que se inició anticoagulación, antihipertensivo, con adecuada evolución del cuadro clínico. Discusión: A pesar de que el síndrome de Balint es un trastorno poco común, de etiología diversa, con escasos reportes a escala global, el caso comentado concordó con las características descritas en la literatura. El abordaje de la paciente en su atención inicial permitió la sospecha diagnóstica oportuna y la indicación de ayudas diagnósticas imagenológicas pertinentes. Tales ayudas soportaron un manejo temprano y la adecuada evolución y resolución del cuadro, en el contexto de la asociación del síndrome a una trombosis de senos venosos cerebrales (una etiología infrecuente). Conclusión: Mediante una historia clínica completa y minuciosa, junto a un adecuado examen neurológico, es posible hacer un acercamiento diagnóstico temprano que permita generar la sospecha del síndrome de Balint y la solicitud temprana de imágenes diagnósticas que orienten en el estudio de su etiología y manejo oportuno, con mejores desenlaces en el paciente.

Introduction: Balint Syndrome is a rare neurological disorder with multiple etiologies. The physical signs include a classic triad (simultagnosia, optic ataxia, and oculomotor apraxia). These symptoms are associated with parieto-occipital lesions, and the prognosis depends on the etiology. This article reports a case secondary to venous sinus thrombosis. Presentation of the case: A 66-year-old woman presented to the emergency room with acute headache associated with progressive neurological symptoms and visual impairment. She had high blood pressure, simultanagnosia, optic ataxia, and oculomotor apraxia. Imaging studies revealed subarachnoid hemorrhage due to thrombosis of the left sigmoid sinus, for which anticoagulation and antihypertensive therapy were started. The patient had a favorable clinical outcome. Discussion: Although Balint syndrome is a rare disorder of diverse etiology with few clinical cases reported globally, the case discussed here was consistent with the characteristics described in the literature. The patient's initial assessment allowed for timely diagnostic suspicion and appropriate imaging studies, which supported early management and the appropriate evolution and resolution of the condition, given the association of the syndrome with an uncommon cause as cerebral venous sinus thrombosis. Conclusion: A complete and thorough medical history, along with a proper neurological exam, can lead to an early diagnostic approach that raises suspicion of Balint's syndrome and prompts timely imaging studies to guide the investigation of its etiology and management, ultimately leading to better outcomes for the patient.

Problemas visuales en niños de edad escolar / Visual Impairment in School-Age Children

Introducción: A partir de su formación permanente y continuada, desde la educación en el trabajo, el tecnólogo de la salud en optometría y óptica desarrolla modos de actuación en la atención primaria de salud, mediante la interacción con escuelas de la comunidad, para identificar problemas visuales en niños y contribuir a su rehabilitación, al brindar educación especializada a familias y docentes. Objetivo: Exponer los resultados de una investigación sobre problemas visuales en niños en edad escolar atendidos en el Policlínico Mario Escalona para la socialización de datos que contribuyan a la educación especializada de familias y docentes en la rehabilitación visual. Métodos: Se realizó un estudio descriptivo, transversal, desde enero de 2020 hasta abril de 2022, para conocer la incidencia del uso de dispositivos electrónicos en niños en edad escolar atendidos en el Policlínico Mario Escalona. Conformaron el universo 1953 niños. Se valoró el defecto refractivo y el tiempo de uso de los dispositivos electrónicos. Resultados: El astigmatismo miópico fue la ametropía más frecuente, con una incidencia superior al 50 por ciento. En encuestas realizadas a los padres se corroboró el uso desmedido de dispositivos electrónicos. Conclusiones: Como acto de responsabilidad profesional, desde la atención primaria de salud, el tecnólogo de la salud en optometría y óptica debe identificar los problemas visuales en niños en edad escolar y brindar educación especializada a familias y docentes, que contribuya a la rehabilitación visual(AU)

Introduction: From his or her permanent and continuous training, from education at work, the health technologist in Optometry and Optics develops modes of action in primary health care, through interaction with community schools, to identify visual problems in children and contribute to their rehabilitation, by providing specialized education to families and professors. Objective: To present the results of a research on visual problems in school-age children treated at Mario Escalona Polyclinic for the socialization of data that contribute to the specialized education of families and teachers in visual rehabilitation. Methods: A descriptive, cross-sectional study was carried out from January 2020 to April 2022, in order to know the incidence of the use of electronic devices in school-age children attended at Policlínico Docente Dr. Mario Escalona Reguera. The universe consisted of 1953 children. The refractive defect and the time of use of electronic devices were assessed. Results: Myopic astigmatism was the most frequent ametropia, with an incidence higher than 50 percent. Surveys of parents corroborated an excessive use of electronic devices. Conclusions: As an act of professional responsibility, from primary health care, the health technologist in Optometry and Peptics should identify visual problems in school-age children, as well as provide specialized education to families and professors, contributing to visual rehabilitation(AU)

Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA / 中华儿科杂志

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.

Dual visual impairment and contrast sensitivity among community-dwelling older adults: a cross-sectional study from the PrevQuedas Brazil trial / Duplo déficit visual e sensibilidade ao contraste em idosos da comunidade: estudo transversal do PrevQuedas Brasil

OBJECTIVE: To investigate the importance of improving visual assessment for community-dwelling older adult fallers. METHODS: Cross-sectional study with eligible older adults (> 60 years old) living in the community and who suffered at least one fall in the last 12 months from the PrevQuedas Brasil clinical trial. Sociodemographic data, information on previous falls, physical and functional assessment (BOMFAQ and FES-I) were collected. We evaluated impairments in visual acuity and contrast sensitivity using the Snellen E chart and low-contrast visual acuity tests, respectively. Dual visual impairment refers to the presence of both impairments. For statistical analysis we compared the participants in relation to the number of falls (single fallers or recurrent fallers) using Chi-square or Fisher's exact test and the significance level was <0.05 for all analyses. RESULTS: Visual acuity, low contrast sensitivity, and dual visual impairment were associated with recurrent falls (OR 1.85); visual impairment was more prevalent among the oldest old. Approximately 90% of the participants reported using glasses, and 63.80% used multifocal lenses. Dual impairment was identified in 143 (20.30%) participants. In multivariate logistic regression, the predictive variables for recurrent falls were low contrast sensitivity (95%CI 1.15­2.47), dual visual impairment (95%CI 1.16­2.83), and self-perceived fall risk (95%CI 1.16­2.46) which was measured using the Falls Efficacy Scale-International. CONCLUSION: Older adults with dual visual impairment are more likely to suffer recurrent falls. Low contrast sensitivity is crucial for fall risk assessment

OBJETIVO: Este estudo investiga a importância de avaliar a visão de idosos caidores na comunidade. METODOLOGIA: Estudo transversal com idosos elegíveis (> 60 anos) residentes na comunidade e que sofreram pelo menos uma queda nos últimos 12 meses do ensaio clínico PrevQuedas Brasil. Foram coletados dados sociodemográficos, informações sobre quedas pregressas, exames físicos e funcionais (BOMFAQ e FES-I). Avaliamos os comprometimentos da acuidade visual e da sensibilidade ao contraste por meio da Tabela E de Snellen e testes de acuidade visual de baixo contraste, respectivamente. O duplo déficit visual refere-se à presença de ambas as deficiências. Para análise estatística comparamos os idosos com relação ao número de quedas (caidores únicos ou caidores recorrentes) usando Qui-quadrado ou Teste exato de Fisher e o nível de significância foi <0.05 para todas as análises. RESULTADOS: Baixa acuidade visual, baixa sensibilidade ao contraste e duplo déficit visual foram associados a quedas recorrentes com odds ratio ­ OR 1,85, frequentemente mais prevalente entre os idosos longevos. Cerca de 90,00% dos idosos relataram usar óculos e 63,80% usavam lentes multifocais. O duplo déficit visual foi identificado em 143 (20,30%) participantes. Nos modelos de regressão logística multivariados, verificamos que as variáveis preditoras para queda recorrente foram a baixa sensibilidade ao contraste (intervalo de confiança ­ IC95% 1,15­2,47), duplo déficit (IC95% 1,16­2,83) e a autopercepção do risco de cair (IC95% 1,16­2,46) medido pela Falls Efficacy Scale-International. CONCLUSÃO: Idosos com baixa sensibilidade ao contraste e duplo déficit visual têm maiores chances de sofrerem múltiplas quedas quando comparados com idosos que possuem apenas baixa acuidade visual. Assim, a baixa sensibilidade ao contraste é essencial na avaliação do risco de quedas dos idosos

Avaliação da linguagem oral de crianças com deficiência visual: uma revisão integrativa da literatura / Oral language assessment of children with visual impairments: an integrative literature review

RESUMO Objetivo revisar a literatura nacional e internacional a respeito dos instrumentos, métodos e técnicas para avaliação de linguagem de crianças com deficiência visual. Estratégia de pesquisa foram realizadas buscas nas bases BVS, PubMed e Scopus, utilizando-se os descritores transtornos da visão, linguagem infantil, baixa visão, cegueira, fonoaudiologia e reabilitação. Critérios de seleção artigos publicados em periódicos nacionais e internacionais, nos idiomas inglês, espanhol e português. Trabalhos indisponíveis para leitura, com amostra composta por não crianças, não pertencentes ao assunto abordado, ou que mencionassem deficiências sensoriais associadas à visual, foram excluídos. Foram também excluídos os artigos que versassem sobre intervenção, salvo os que também abordassem a avaliação. As referências dos artigos lidos na íntegra foram selecionadas de acordo com esses critérios. Analisaram-se os instrumentos/métodos/técnicas de avaliação propostos, os objetivos dos estudos, sua amostra e principais resultados obtidos. Resultados foram recuperados 157 artigos, dos quais, selecionaram-se, a partir dos critérios de exclusão, 6 para leitura integral, e mais 6 obtidos de suas referências, totalizando 12 artigos. Sete trabalhos foram realizados com crianças pré-escolares e cegas e os instrumentos/métodos/técnicas de avaliação foram variados, contemplando desde avaliações de níveis linguísticos específicos, até habilidades sociocomunicativas. Os objetivos dos estudos relacionaram-se à comparação entre o desenvolvimento da criança com deficiência visual e vidente. Conclusão a revisão trouxe contribuições para pensar a avaliação da linguagem de crianças com deficiência visual, como a utilização dos sentidos remanescentes; nenhum estudo apresentou instrumento para avaliação de níveis da linguagem em crianças escolares com deficiência visual.

ABSTRACT Purpose to review the national and international literature regarding instruments, methods and techniques for language assessment in visually impaired children. Research strategy searches in the VHL, PUBMED and SCOPUS databases using the descriptors vision disorders, child language, low vision, blindness, speech-language pathology and rehabilitation. Selection criteria articles published in national and international journals, in English, Spanish and Portuguese. Studies that were unavailable for reading, with a sample other than children, not addressing the subject, or that reported sensory impairments associated with visual impairments were excluded. Studies that dealt with intervention were also excluded, except for those that also addressed assessment. The references of the articles read in full were selected according to these criteria. The investigators evaluated the proposed assessment instruments/methods/techniques, as well as the objectives of the studies, their samples and main results. Results 157 articles were retrieved, of which 6 were selected for full reading based on the exclusion criteria, and another 6 studies were obtained from their references, thus totaling 12 articles. Seven studies involved preschool and blind children, with various assessment instruments/methods/techniques, ranging from assessments of specific linguistic levels to socio-communicative skills. The objectives of the studies were related to the comparison between the development of children with and without visual impairment. Conclusion the review provided contributions to analyses of the language assessment of visually impaired children, such as the use of the remaining senses; no study had an instrument to assess language levels in schoolchildren with VI.

Avaliação dos alunos deficientes visuais e videntes do Instituto de Cegos Padre Chico / Evaluation of the visually impaired and sighted students at the Instituto de Cegos Padre Chico

RESUMO Objetivo Avaliar o perfil dos alunos concluintes, deficientes visuais e videntes do Instituto de Cegos Padre Chico entre os anos 2011 e 2020. Métodos Entre janeiro e março de 2021, foi realizada uma análise documental dos alunos concluintes entre os anos de 2011 e 2020. Foram coletados dados relacionados à situação social, educacional, socioeconômica e oftalmológica. Os dados foram tratados no programa Microsoft Excel 2013 da Microsoft e analisados no software livre Bioestat, versão 5.0. Resultados Foram coletados os dados de 110 concluintes cegos, com baixa visão e videntes. Mais de 90% dos alunos declararam rendimento familiar equivalente a um salário-mínimo e meio. Do total da amostra, 52 alunos eram cegos; 38 tinham baixa visão, e 20 eram videntes. Dentre as 36 patologias identificadas entre os alunos, 57,78% levaram à cegueira e 42,22%, à baixa visão. Em alunos cegos, as patologias mais frequentes foram glaucoma congênito (32,69%) e amaurose congênita de Leber (11,53%); em alunos com baixa visão, foram glaucoma congênito e distrofias de retina (ambas em 10,53% da amostra). Conclusão É de suma importância a avaliação da saúde ocular para que o professor realize de forma mais rápida as práticas de ensino e alcance resultados satisfatórios na alfabetização de crianças com deficiência visual.

ABSTRACT Objective To evaluate the profile of visually impaired and sighted students at the Instituto de Cegos Padre Chico (ICPC) between 2011 and 2020. Methods Between January and March 2021, a document analysis of the students who completed the undergraduate course between 2011 and 2020. Data related to social, educational, socioeconomic, and ophthalmological situation were collected. The data were treated in Microsoft Excel 2013 and analyzed in the free software Bioestat, version 5.0. Results Retrospective data were collected from 110 blind, low-vision and sighted students who were graduating. More than 90% of the students declared family income equivalent to one and a half minimum wages. Of the total sample, 52 students were blind; 38 had low vision, and 20 were sighted students. Among the 36 pathologies identified among the students, 57.78% led to blindness, and 42.22%, to low vision. In blind students, the most frequent diagnosis was congenital glaucoma (32.69%) and Leber congenital amaurosis (11.53%); in low vision students, congenital glaucoma and retinal dystrophies (both in 11.53% of the population of this study). Conclusion The evaluation of the eye health is of vital importance for the teacher to perform teaching practices faster and achieve satisfactory results in the literacy of visually impaired children.

Ophthalmic services utilisation and associated factors in the Ashanti region, Ghana

Objective: This survey determined the utilisation of eye care services and associated factors among adults in the Ashanti region of Ghana. Design: A population-based cross-sectional descriptive study Method: Data for this study was collected from 1615 randomly selected individuals in the Ashanti region of Ghana, using a structured, pretested interviewer-guided questionnaire. Information regarding the accessibility and determinants of, and barriers to, eye care services was based on self-reports, using the WHO Eye Care Services Assessment Questionnaire. Inferential analyses were performed using the chi-square test for statistical significance, set at p=0.05.Setting: Ashanti Region, Ghana Participants: One thousand six hundred and fifteen randomly selected adults Results: Public eye care facilities were used by 58.2% of the participants for their last eye exam. Of the participants, 47.0% had travelled less than five kilometres for their last eye exam. Waiting time and service cost were participants' most frequently cited challenges in seeking care. No need felt (40.1%), self-medication (37.7%) and cost (22.2%) were the most frequently mentioned barriers to seeking ophthalmic services. Conclusion: The major challenges encountered in seeking eye care services were waiting time and cost of service. Major barriers to ophthalmic services utilisation were no need felt, self-medication and cost. Factors such as cost, lack of felt need and self-medication, which serve as barriers to utilising eye care services, should be addressed by stakeholders through eye health education and promotion

Eye care utilization among older subjects with visual impairment in Northwest Ethiopia

Purpose: To find out the level of eye care service utilization and its determinants among the elderly visually impaired populations while visiting ophthalmic outreach locations in North Western Ethiopia, 2021. Methods: An ophthalmic outreach-based cross-sectional study was conducted on 852 visually impaired older people. Participants were selected by using a systematic random sampling method from January to July 2021. Data were collected by using an interviewer-administered questionnaire and an ocular examination. The collected data were entered into the Epi Info 7, and analyzed using SPSS 20. A binary logistic regression was fitted. Results: A total of 821 participants, with a response rate of 96.5%, were included in the study. The utilization of eye care services within the past two years prior to the study was 21.1% (95 % CI: 18.2­23.9). Having systemic disease (AOR = 3.2, 95% CI: 1.5­7.0), being a spectacle wearer (AOR = 4.5, 95% CI: 2.0­9.4), having visual impairment at distance (AOR = 2.9; 95% CI: 1.5­5.6), being blind (AOR = 2.9; 95% CI: 1.5­5.6), duration of visual impairment ≤1 year (AOR = 2.5; 95% CI: 1.3­4.9) were all significantly associated. Conclusion: In this study, utilization of eye care services was low. Being visually impaired at distance, being blind, recent onset of visual impairment, being a spectacle wearer, and having systemic disease were all related to the use of eye care services. The commonest barriers to utilization of eye care services were financial scarcity and long distances between eye care facilities.

Avaliação da qualidade de vida relacionada à saúde em um programa de reabilitação para pessoas com deficiência visual / Health-related quality of life assessment in a rehabilitation program for people with visual impairment

RESUMO Objetivo: Aplicar um protocolo para avaliar a qualidade de vida relacionada à saúde de participantes de um programa de reabilitação para pessoas com deficiência visual de um instituto de referência. Métodos: Foi realizado um estudo transversal com 60 adultos com deficiência visual participantes de um programa de reabilitação para pessoas com deficiência visual de um instituto de referência no Rio de Janeiro. O protocolo de pesquisa consistiu em um questionário com dados pessoais, sociais, demográficos e informações clínicas; no European Quality of Life 5 Dimensions 3 Level Version para medição genérica de qualidade de vida relacionada à saúde; no Patient Health Questionnaire-2 para rastrear a depressão e no Visual Function Questionnaire 25 para avaliar a qualidade de vida relacionada à saúde específica da função visual. A principal variável independente analisada foi o tempo de exposição ao programa. Modelos de regressão linear foram utilizados para investigar a relação entre o tempo no programa e a qualidade de vida relacionada à saúde do Visual Function Questionnaire 25 e do European Quality of Life 5 Dimensions 3 Level Version. Resultados: A maioria dos participantes (73%) possuía deficiência visual adquirida; 68% tinham menos de 60 anos e 53% perderam a visão há mais de 10 anos. A condição visual autorreferida mais comum foi cegueira em ambos os olhos (48%) e 42% frequentavam o programa há mais de 3 anos. A mediana do índice de utilidade do European Quality of Life 5 Dimensions 3 Level Version foi de 0,75. O instrumento específico para rastreamento de depressão, o Patient Health Questionnaire, identificou proporção de 27% de participantes positivos. O Visual Function Questionnaire 25 apresentou escores abaixo de 50 (escala de zero a cem) nos subdomínios visão geral, atividades de perto e atividades à distância. As medianas de dor ocular e aspectos sociais do Visual Function Questionnaire 25 foram significativamente menores entre aqueles que realizavam tratamento psiquiátrico. O tempo de reabilitação foi independentemente associado a melhores escores dos subdomínios saúde mental e atividades da vida diária. Conclusão: O protocolo demonstrou aplicabilidade para a avaliação de qualidade de vida relacionada à saúde em pessoas com deficiência visual, permitindo concluir que o maior tempo no programa de reabilitação foi associado a maiores escores de qualidade de vida.

ABSTRACT Purpose: This study aimed to implement a health-related quality of life (HRQoL) assessment protocol to measure the consequences of a rehabilitation program for visual impaired people at a leading reference institute in Brazil. Methods: A cross-sectional study was conducted with 60 visual impaired adults enrolled in a Rehabilitation Program of the Instituto Benjamin Constant. The research protocol consisted of a questionnaire with personal data, social, demographic, and clinical information; the EQ-5D-3L instrument for generic HRQoL measurement; the Patient Health Questionnaire-2 (PHQ- 2) to screen for depression, and the 25-Item National Eye Institute Visual Function Questionnaire (NEI VFQ-25) to assess specific HRQoL of visual function. The main independent variable analyzed was the exposure time to the rehabilitation. Linear regression models were used to investigate the relationship between rehabilitation time and HRQoL of the NEI VFQ-25 and EQ 5D-3L instruments. Results: Most participants (73%) have acquired visual impairment, 68% are under 60 years old, 53% lost their vision more than 10 years ago, the most common self-reported visual condition (48%) was blindness in both eyes and 42% are in the Rehabilitation Program for more than 3 years. The median HRQoL utility index for EQ 5D-3L was 0.75. The specific instrument for screening for depression, PHQ-2, identified 27% of participants above the cut-off point. The NEI VFQ-25 instrument showed scores below 50 (scale from 0 to 100) in subdomains: "general vision", "near activities" and "distance activities". The medians of "ocular pain" and "social aspects" of the VFQ-25 were significantly lower among those who have undergone psychiatric treatment. "Rehabilitation time" was independently associated with better scores of "mental health" and "role difficulties" subdomains. Conclusion: The protocol showed applicability for the assessment of HRQoL, allowing the conclusion that longer time in the rehabilitation program was associated with higher quality of life scores.

The Value of VR-PVEP in Objective Evaluation of Monocular Refractive Visual Impairment / 法医学杂志

OBJECTIVES@#To study the virtual reality-pattern visual evoked potential (VR-PVEP) P100 waveform characteristics of monocular visual impairment with different impaired degrees under simultaneous binocular perception and monocular stimulations.@*METHODS@#A total of 55 young volunteers with normal vision (using decimal recording method, far vision ≥0.8 and near vision ≥0.5) were selected to simulate three groups of monocular refractive visual impairment by interpolation method. The sum of near and far vision ≤0.2 was Group A, the severe visual impairment group; the sum of near and far vision <0.8 was Group B, the moderate visual impairment group; and the sum of near and far vision ≥0.8 was Group C, the mild visual impairment group. The volunteers' binocular normal visions were set as the control group. The VR-PVEP P100 peak times measured by simultaneous binocular perception and monocular stimulation were compared at four spatial frequencies 16×16, 24×24, 32×32 and 64×64.@*RESULTS@#In Group A, the differences between P100 peak times of simulant visual impairment eyes and simultaneous binocular perception at 24×24, 32×32 and 64×64 spatial frequencies were statistically significant (P<0.05); and the P100 peak time of normal vision eyes at 64×64 spatial frequency was significantly different from the simulant visual impairment eyes (P<0.05). In Group B, the differences between P100 peak times of simulant visual impairment eyes and simultaneous binocular perception at 16×16, 24×24 and 64×64 spatial frequencies were statistically significant (P<0.05); and the P100 peak time of normal vision eyes at 64×64 spatial frequency was significantly different from the simulant visual impairment eyes (P<0.05). In Group C, there was no significant difference between P100 peak times of simulant visual impairment eyes and simultaneous binocular perception at all spatial frequencies (P>0.05). There was no significant difference in the P100 peak times measured at all spatial frequencies between simulant visual impairment eyes and simultaneous binocular perception in the control group (P>0.05).@*CONCLUSIONS@#VR-PVEP can be used for visual acuity evaluation of patients with severe and moderate monocular visual impairment, which can reflect the visual impairment degree caused by ametropia. VR-PVEP has application value in the objective evaluation of visual function and forensic clinical identification.

Objective Assessment of Visual Field Defects Caused by Optic Chiasm and Its Posterior Visual Pathway Injury / 法医学杂志

OBJECTIVES@#To investigate the characteristics and objective assessment method of visual field defects caused by optic chiasm and its posterior visual pathway injury.@*METHODS@#Typical cases of visual field defects caused by injuries to the optic chiasm, optic tracts, optic radiations, and visual cortex were selected. Visual field examinations, visual evoked potential (VEP) and multifocal visual evolved potential (mfVEP) measurements, craniocerebral CT/MRI, and retinal optical coherence tomography (OCT) were performed, respectively, and the aforementioned visual electrophysiological and neuroimaging indicators were analyzed comprehensively.@*RESULTS@#The electrophysiological manifestations of visual field defects caused by optic chiasm injuries were bitemporal hemianopsia mfVEP abnormalities. The visual field defects caused by optic tract, optic radiation, and visual cortex injuries were all manifested homonymous hemianopsia mfVEP abnormalities contralateral to the lesion. Mild relative afferent pupil disorder (RAPD) and characteristic optic nerve atrophy were observed in hemianopsia patients with optic tract injuries, but not in patients with optic radiation or visual cortex injuries. Neuroimaging could provide morphological evidence of damages to the optic chiasm and its posterior visual pathway.@*CONCLUSIONS@#Visual field defects caused by optic chiasm, optic tract, optic radiation, and visual cortex injuries have their respective characteristics. The combined application of mfVEP and static visual field measurements, in combination with neuroimaging, can maximize the assessment of the location and degree of visual pathway damage, providing an effective scheme for the identification of such injuries.

Pregnancy-associated neuromyelitis optical spectrum disorder combined with primary Sjögren's syndrome: A critical illness case report / 北京大学学报(医学版)

Central nervous system involvement in primary Sjögren's syndrome (pSS) is less common and usually presents as white matter lesions, neuromyelitis optica spectrum disorder (NMOSD), or transverse myelitis. NMOSD is an immune-mediated inflammatory demyelinating disease of the central nervous system with a high rate of relapse and significant disability. Studies have shown that patients with pSS combined with NMOSD have more severe symptoms and poorer prognosis. Here, we present a case of critical illness in pregnancy-associated NMOSD combined with Sjögren's syndrome. The patient was a 30-year-old pregnant woman with a history of Sjögren's syndrome who was diagnosed with NMOSD. She received combination therapy with steroids, intravenous immunoglobulin (IVIG), and hydroxychloroquine during pregnancy, resulting in partial resolution of numbness below the waist. However, due to irregular medication adherence outside the hospital setting, she developed weakness in her right lower limb accompanied by inability to move it, while her left lower limb still had some mobility but occasional numbness along with urinary and fecal incontinence. Ten days later, she was admitted to the emergency department where an emergency cesarean section was performed to deliver a healthy baby boy. However, her condition worsened postpartum as she developed high fever accompanied by bilateral lower limb paralysis and weakness along with loss of voluntary control over urination and defecation. The patient underwent ano-ther course of treatment consisting of steroids and IVIG; however there was limited improvement in symptoms observed after this intervention. Following administration of rituximab for the first time, the patient developed urinary tract infection which was successfully managed before continuing regular infusions. In later stages the patient could walk slightly with a limp and regained control over urination and defecation, allowing her to resume normal activities. This case suggests that combination therapy with steroids, IVIG, and hydroxychloroquine should be considered for the patients with pregnancy-associated NMOSD combined with Sjögren's syndrome. Rituximab can significantly improve symptoms such as postpartum paralysis in patients with NMOSD, however, there may be a risk of infection associated with its use.

Discapacidad visual y ceguera por catarata en Cuba en 2016 / Visual Impairment and Cataract Blindness in Cuba in 2016

Objetivo: Describir la discapacidad visual por catarata en la población de 50 años y más de edad y la cobertura de la atención oftalmológica en Cuba durante el año 2016. Métodos: Se realizó una investigación epidemiológica, descriptiva y transversal en personas de 50 años o más, que tomó la encuesta rápida de ceguera evitable realizada en Cuba en el año 2016. Con los datos obtenidos en los cuestionarios se confeccionó una base de datos. La muestra estuvo conformada por 3 920 habitantes distribuida en 112 conglomerados. Las variables estudiadas fueron la discapacidad visual, tipo de cirugía, tiempo de operados, resultados visuales y causas de malos resultados. Resultados: La prevalencia de ceguera bilateral fue de un porciento, para la discapacidad visual severa 2,7 por ciento, y moderada un 9,0 por ciento. El 66,2 por ciento de los ojos estudiados presentó buenos resultados visuales, de los cuales al 69,2 por ciento se le implantó una lente intraocular. Las comorbilidades oculares (67,1 por ciento) fueron la causa más frecuente de malos resultados visuales posquirúrgicos y representó el 44,7 por ciento en el total de ojos afectados. Conclusiones: El riesgo de presentar ceguera por catarata es del 1 por ciento. La discapacidad visual moderada es la más prevalente. En todos los rangos de discapacidad, la catarata bilateral no presenta diferencias entre sexo, pero en la unilateral el sexo masculino es el más frecuente. La primera causa de malos resultados posquirúrgicos son los trastornos refractivos en discapacidad visual moderada y las comorbilidades oculares para la discapacidad visual severa y ceguera(AU)

Purpose: To describe visual disability due to cataract in the population aged 50 years and older and the coverage of ophthalmologic care in Cuba during 2016. Methods: An epidemiological, descriptive and cross-sectional research was conducted in people aged 50 years and older, who took the rapid survey of avoidable blindness conducted in Cuba in 2016. With the data obtained from the questionnaires, a database was made. The sample, distributed in 112 clusters, consisted of 3 920 inhabitants. The variables studied were visual impairment, type of surgery, time of surgery, visual results and causes of poor results. Results: The prevalence of bilateral blindness was 1 percent, for severe visual impairment, 2.7 percent and for moderate visual impairment 9.0 percent. Good visual outcomes were observed in 66.2 percent of the eyes studied, of which 69.2 percent were implanted with an intraocular lens. Ocular comorbidities (67.1 percent) were the most frequent cause of poor postsurgical visual outcomes and accounted for 44.7 percent in the total number of affected eyes. Conclusions: The risk of presenting blindness due to cataract is 1 percent. Moderate visual impairment is the most prevalent. In all ranges of disability, bilateral cataract does not show differences between genders, but in unilateral cataract the male gender is the most frequent. The first cause of poor postoperative outcomes are refractive disorders in moderate visual impairment and ocular comorbidities for severe visual impairment and blindness(AU)

Bengala, preconceito e dificuldade: representações e identidade social de pessoas cegas e com baixa visão / Cane, prejudice and difficulty: representations and social identity of blind and low vision people / Bengala, prejuicio y dificultad: representaciones e identidad social de personas ciegas y baja visión

Bengala, preconceito e dificuldade: representações e identidade social de pessoas cegas e com baixa visão. Representações sociais são um conjunto de crenças e explicações compartilhadas no senso comum, que auxiliam os indivíduos a se ajustarem às estranhezas cotidianas ao tornar familiar o desconhecido. Este estudo é parte de uma pesquisa que objetivou compreender a relação entre as representações sociais da deficiência visual e a identidade social para pessoas cegas e com baixa visão. Participaram 40 pessoas, 20 autodeclaradas cegas e 20 autodeclaradas com baixa visão. Foi realizado um teste de associação livre, a partir do termo indutor "cego" ou "baixa visão", solicitando-se aos participantes que falassem as cinco primeiras palavras que vinham à mente quando pensavam nos termos referidos. As palavras evocadas foram submetidas a uma análise prototípica por meio do software IRaMuTeQ 0.2. Como resultados, observou-se que a representação social de "cego" está ancorada na representação de "preconceito", enquanto a representação social de "baixa visão" está ancorada na representação de "dificuldade"; a objetificação da pessoa cega ocorre por meio da bengala; e a identidade social do grupo de pessoas cegas aparenta relativa coesão, já a do grupo de pessoas com baixa visão parece bastante fragmentada. Conclui-se pela necessidade de intervenções com foco na constituição da identidade social das pessoas com deficiência visual.(AU)

Cane, prejudice and difficulty: representations and social identity of blind and low vision people. Social representations are a set of beliefs and explanations shared in common sense, which help individuals to adjust to everyday strangeness by making the unknown familiar. This study is part of a research that aimed to understand the relationship between the social representations of visual impairment and the social identity for blind and low vision people. 40 people participated, 20 self-declared blind and 20 self-declared with low vision. A free association test was carried out, using the term "blind" or "low vision", asking participants to speak the first five words that came to mind when they thought of the terms mentioned. The evoked words were submitted to a prototypical analysis using the software IRaMuTeQ 0.2. As a result, it was observed that the social representation of "blind" is anchored in the representation of "prejudice", while the social representation of "low vision" is anchored in the representation of "difficulty"; the objectification of the blind person occurs through the cane; and the social identity of the group of blind people appears to be relatively cohesive, whereas that of the group of people with low vision appears to be quite fragmented. It concludes by the need for interventions focused on the constitution of the social identity of people with visual impairments.(AU)

Bengala, prejuicio y dificultad: representaciones e identidad social de personas ciegas y baja visión. Las representaciones sociales son un conjunto de creencias y explicaciones compartidas en sentido común, que ayudan a los individuos a adaptarse a la extrañeza cotidiana al hacer familiar lo desconocido. Este estudio es parte de una investigación que tuvo como objetivo comprender la relación entre las representaciones sociales de la discapacidad visual y la identidad social de las personas ciegas y con baja visión. Participaron cuarenta personas, 20 autodeclaradas ciegas y 20 autodeclaradas con baja visión. Se realizó una prueba de asociación libre, utilizando el término "ciego" o "baja visión", pidiendo a los participantes que pronunciaran las primeras cinco palabras que les venían a la cabeza cuando pensaban en los términos mencionados. Las palabras evocadas se sometieron a un análisis prototípico utilizando el software IRaMuTeQ 0.2. Como resultado, se observó que la representación social de los "ciegos" se ancla en la representación del "prejuicio", mientras que la representación social de la "baja visión" se ancla en la representación de la "dificultad"; la objetivación del ciego se produce a través del bastón; y la identidad social del grupo de personas ciegas parece estar relativamente cohesionada, mientras que la del grupo de personas con baja visión parece estar bastante fragmentada. Concluye por la necesidad de intervenciones enfocadas a la constitución de la identidad social de las personas con discapacidad visual.(AU)

Desafios e possibilidades do viver sem ver / Challenges and possibilities of living without seeing

O presente artigo tem por objetivo acompanhar o desenrolar de um dispositivo clínico, destinado às pessoas com deficiência visual do Instituto Benjamin Constant. Para tal empreendimento, partimos das formulações teórico-metodológicas da Teoria Ator-Rede (TAR) e dos termos Versão, Política Ontológica e PesquisarCOM. Estes são articulados de modo a propiciar uma reflexão acerca da concepção predominante da cegueira enquanto déficit, tal como os atores e as práticas que a sustentam. Lançamos luz sobre o nosso campo de atuação, a fim de fazer proliferar outras realidades que admitam a pessoa cega como aquela que pode ser eficiente. Assim, concluímos que é possível a construção de lugares propositivos em relação à deficiência visual que transportem a possibilidade de invenção e reinvenção de si.

Enfermedad del ojo seco / Dry Eye Disease

El ojo seco es una condición frecuente que tiene un impacto importante sobre la calidad de vida, pues conlleva a una sensación de incomodidad y discapacidad visual. Adicionalmente, puede tener un efecto pernicioso sobre procedimientos quirúrgicos oculares, lo que compromete el resultado de las cirugías de córnea, catarata y refractiva. Este síndrome de disfunción lagrimal es un padecimiento multifactorial, derivado de una deficiencia o evaporación excesiva de la lágrima. Se realizó una búsqueda en la literatura científica, con el objetivo de describir de forma general la enfermedad del ojo seco, brindando información actualizada en relación a su concepto, epidemiología, clasificación, factores de riesgo, fisiopatología, síntomas y signos, retos diagnósticos atendiendo a la complejidad de la entidad y tratamiento. La identificación temprana de los subtipos y el control de la severidad es crucial para mejorar el bienestar del paciente. La carga económica en la sociedad, y el impacto de la enfermedad en el individuo, a través de su efecto sobre la visión, calidad de vida y productividad laboral, así como en su esfera psicológica y física son considerables. Por ello, es importante que los oftalmólogos con el apoyo de los tecnólogos en optometría y óptica diagnostiquen y traten la enfermedad en sus fases iniciales, en la que los signos y síntomas todavía no son graves, lo que permitirá ralentizar su evolución natural, y posiblemente disminuir las consecuencias perjudiciales que provoca(AU)

Dry eye is a common condition that has a significant impact on quality of life, leading to a feeling of discomfort and visual impairment. Additionally, it can have a pernicious effect on ocular surgical procedures, compromising the outcome of corneal, cataract and refractive surgeries. This lacrimal dysfunction syndrome is a multifactorial condition, derived from a deficiency or excessive tear evaporation. A search of the scientific literature was carried out with the aim of describing dry eye disease in a general way, providing updated information regarding its concept, epidemiology, classification, risk factors, pathophysiology, symptoms and signs, diagnostic challenges considering the complexity of the condition and its treatment. Early identification of subtypes and control of severity is crucial to improve patient welfare. The economic burden on society, and the impact of the disease on the individual, through its effect on vision, quality of life and work productivity, as well as on the psychological and physical aspects, are considerable. Therefore, it is important that ophthalmologists with the support of optometrists and ophthalmic technologists diagnose and treat the disease in its early stages, when signs and symptoms are not yet severe, which will slow down its natural progression, and possibly reduce the resulting harmful consequences(AU)

Plan nacional de salud visual / National visual health plan

El Plan nacional de salud visual ha sido desarrollado en colaboración con el Comité Visión 2020, del cual el Ministerio de Salud es el ente rector, junto a diferentes organizaciones públicas y privadas del país y aborda las prioridades para prevenir los factores de riesgo, diagnosticar y brindar tratamiento de las enfermedades que causan deficiencia visual y ceguera prevenible, haciendo para cada una, un análisis de la magnitud del problema, barreras, objetivos y estrategias a ejecutar que deberán integrarse a las diferentes intervenciones que se ejecutan en el Sistema Nacional Integrado de Salud

The National Visual Health Plan has been developed in collaboration with the Vision 2020 Committee, of which the Ministry of Health is the governing body, together with different public and private organizations in the country and addresses the priorities to prevent risk factors, diagnose and provide treatment for diseases that cause visual impairment and preventable blindness, making for each one, an analysis of the magnitude of the problem, barriers, objectives and strategies to be executed that must be integrated into the different interventions that are carried out in the National Integrated Health System