Clinical correlates of pareidolias and color discrimination deficits in idiopathic REM sleep behavior disorder and Parkinson's disease.

Visuoperceptual dysfunction is common in Parkinson's disease (PD) and is also reported in its prodromal phase, isolated REM sleep behavior disorder (iRBD). We aimed to investigate color discrimination ability and complex visual illusions known as pareidolias in patients with iRBD and PD compared to healthy controls, and their associating clinical factors. 46 iRBD, 43 PD, and 64 healthy controls performed the Farnsworth-Munsell 100 hue test and noise pareidolia tests. Any relationship between those two visual functions and associations with prodromal motor and non-motor manifestations were evaluated, including MDS-UPDRS part I to III, Cross-Cultural Smell Identification Test, sleep questionnaires, and comprehensive neuropsychological assessment. iRBD and PD patients both performed worse on the Farnsworth-Munsell 100 hue test and had greater number of pareidolias compared to healthy controls. No correlations were found between the extent of impaired color discrimination and pareidolia scores in either group. In iRBD patients, pareidolias were associated with frontal executive dysfunction, while impaired color discrimination was associated with visuospatial dysfunction, hyposmia, and higher MDS-UPDRS-III scores. Pareidolias in PD patients correlated with worse global cognition, whereas color discrimination deficits were associated with frontal executive dysfunction. Color discrimination deficits and pareidolias are frequent but does not correlate with each other from prodromal to clinically established stage of PD. The different pattern of clinical associates with the two visual symptoms suggests that evaluation of both color and pareidolias may aid in revealing the course of neurodegeneration in iRBD and PD patients.

Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations.

Introduction: Color vision defects (CVDs) are conditions characterized by the alteration of normal trichromatic vision. CVDs can arise as the result of alterations in three genes (OPN1LW, OPN1MW, OPN1SW) or as a combination of genetic predisposition and environmental factors. To date, apart from Mendelian CVDs forms, nothing is known about multifactorial CVDs forms. Materials and Methods: Five hundred and twenty individuals from Silk Road isolated communities were genotyped and phenotypically characterized for CVDs using the Farnsworth D-15 color test. The CVDs traits Deutan-Protan (DP) and Tritan (TR) were analysed. Genome Wide Association Study for both traits was performed, and results were corrected with a False Discovery Rate linkage-based approach (FDR-p). Gene expression of final candidates was investigated using a published human eye dataset, and pathway analysis was performed. Results: Concerning DP, three genes: PIWIL4 (FDR-p: 9.01*10-9), MBD2 (FDR-p: 4.97*10-8) and NTN1 (FDR-p: 4.98*10-8), stood out as promising candidates. PIWIL4 is involved in the preservation of Retinal Pigmented Epithelium (RPE) homeostasis while MBD2 and NTN1 are both involved in visual signal transmission. With regards to TR, four genes: VPS54 (FDR-p: 4.09*10-9), IQGAP (FDR-p: 6,52*10-10), NMB (FDR-p: 8.34*10-11), and MC5R (FDR-p: 2.10*10-8), were considered promising candidates. VPS54 is reported to be associated with Retinitis pigmentosa; IQGAP1 is reported to regulate choroidal vascularization in Age-Related Macular Degeneration; NMB is involved in RPE homeostasis regulation; MC5R is reported to regulate lacrimal gland function. Discussion: Overall, these results provide novel insights regarding a complex phenotype (i.e., CVDs) in an underrepresented population such as Silk Road isolated communities.

Efectos neurológicos en trabajadores expuestos a tolueno. Revisión sistemática / Neurological effects in workers exposed to toluene. Systematic review

Introducción y objetivo: el tolueno es un disolvente orgánico derivado del benceno empleado en diversas indus-trias, con potenciales efectos nocivos para los trabajadores. Este estudio pretende conocer los posibles efectos neurológicos que presentan los trabajadores expuestos a tolueno.Material y métodos: revisión sistemática de estudios publicados en inglés y español entre enero/2000-diciem-bre/2021. Las bases de datos consultadas fueron MEDLINE, WOS, Scopus, Embase, LILACS, IBECS y Cochrane Li-brary. La calidad de los estudios se evaluó mediante la declaración STROBE y el nivel de evidencia mediante los criterios SIGN.Resultados: Se incluyeron 14 estudios observacionales (calidad entre 13-18, nivel de evidencia entre 2+ y 3). Ocho estudios examinaron síntomas neurológicos inespecíficos y alteraciones del comportamiento encontrando un au-mento de síntomas como cefalea, náuseas o vómitos, y una disminución del rendimiento motor y atención en tra-bajadores expuestos a tolueno (p<0,05). Cuatro estudios examinaron los efectos visuales, encontrando valores de Índice de Confusión de Color (CCI) más elevados en el grupo expuesto (p<0,05). Por último, dos estudios examina-ron los efectos del tolueno sobre la audición en co-exposición con ruido, observando en uno de ellos agravamiento de la pérdida auditiva en ambiente ruidoso (concentración media 33-164,6ppm), (p<0,001); mientras que en el otro estudio no se observaron efectos a concentraciones ≤50ppm.Conclusión: la exposición laboral a tolueno produce efectos neurológicos como síntomas inespecíficos, alteracio-nes del comportamiento, y efectos en la visión y en la audición. No obstante, es necesario realizar estudios con mejor diseño y calidad metodológica, ajustando factores de confusión y con mayor tamaño muestral (AU)

Introduction and objective: toluene is an organic solvent derived from benzene used in various industries, with potential harmful effects for workers. This study aims to determine the possible neurological effects of workers exposed to toluene.Material and methods: Systematic review of studies published in English and Spanish between January/2000-De-cember/2021. The databases consulted were MEDLINE, WOS, Scopus, Embase, LILACS, IBECS and Cochrane Library. Study quality was assessed using the STROBE statement and the level of evidence using the SIGN criteria.Results: 14 observational studies were included (quality between 13-18, level of evidence between 2+ and 3). Eight studies examined non-specific neurological symptoms and behavioral alterations, finding an increase in symptoms such as headache, nausea or vomiting, and a decrease in motor performance and attention in workers exposed to toluene (p<0.05). Four studies examined visual effects, finding higher Color Confusion Index (CCI) values in the exposed group (p<0.05). Finally, two studies examined the effects of toluene on hearing in co-exposure with noise observing in one of them aggravation of hearing loss in noisy environment (mean concentration 33-164.6ppm), (p<0.001); while in the other study no effects were observed at concentrations ≤50ppm.Conclusion: occupational exposure to toluene produces neurological effects such as nonspecific symptoms, behav-ioral alterations, and effects on vision and hearing. However, it is necessary to carry out studies with better design and methodological quality, adjusting for confounding factors and with a larger sample size (AU)

Daltonismo racional / Rational Daltonism / Daltonismo Racional

Con la técnica de aerografía sobre madera, se crea la obra "Daltonismo Racional", composición planteada en orden cartesiano, iniciando en el plano izquierdo superior con el panel rojo de línea totalmente quebrada, en constante zigzag, seguido a la derecha por el panel verde con gráfico de cigarrillo humeante; luego, en el sector izquierdo debajo del panel rojo encontramos el panel verde con la botella de licor y, finalmente, en la zona derecha inferior hallamos el panel con el gráfico del monitor rojo y línea blanca horizontal. Respecto a sus dimensiones, corresponde a un políptico conformado por cuatro módulos cuadrados, de 36 cm x 36 cm x 7 cm de profundidad. Entre los módulos hay un espacio de 20 cm, lo cual permite la formación de una cruz, por los dos espacios cruzados perpendicularmente. La obra tiene un carácter contestatario, frente a la manera como se pretende financiar la salud pública, debido a que los impuestos generados por la venta y consumo de alcohol y cigarrillos, se destinan para la salud, lo que nos lleva a una paradoja: ¿es razonable pensar que a través del detrimento de la salud de las personas que consumen licores y cigarrillos, se intente solucionar los problemas de salud?, ¿no es acaso la prevención y el no consumo de estas sustancias, lo que nos permite cultivar un mejor estado de salud?

With the technique of airbrushing on wood, the work "Rational Daltonism" is created. This is laid out in Cartesian order, starting on the upper left plane with the red panel with a totally broken line, in constant zigzag, followed to the right by the green panel with a graphic of a smoking cigarette; then, in the left sector below the red panel we find the green panel with the liquor bottle and, finally, in the lower right area we find the panel with the red monitor graphic and horizontal white line. Regarding its dimensions, it corresponds to a polyptych made up of four square modules, 36 cm x 36 cm x 7 cm deep. Between the modules there is a space of 20 cm, which allows the formation of a cross, by the two spaces crossed perpendicularly. The work has an anti-establishment character, as opposed to the way in which public health is intended to be financed, because the taxes generated by the sale and consumption of alcohol and cigarettes are destined for health, which leads us to a paradox: Is it reasonable to think that there is an attempt to solve health problems through the health detriment of the people who consume liquor and cigarettes? Is not prevention and not consuming these substances what allows us to cultivate a better health condition?

Com a técnica de aerografia sobre madeira, é criada a obra Daltonismo Racional. Esta está disposta em ordem cartesiana, iniciando no plano superior esquerdo com o painel vermelho com uma linha totalmente quebrada, em constante ziguezague, seguido à direita pelo painel verde com o gráfico de um cigarro fumando; em seguida, no setor esquerdo abaixo do painel vermelho encontramos o painel verde com a garrafa de licor e, finalmente, na área inferior direita encontramos o painel com o gráfico do monitor vermelho e linha branca horizontal. Quanto às suas dimensões, corresponde a um políptico composto por quatro módulos quadrados, com 36 cm x 36 cm x 7 cm de profundidade. Entre os módulos existe um espaço de 20 cm, que permite a formação de uma cruz, pelos dois espaços cruzados perpendicularmente. La obra tiene un carácter contestatario, frente a la manera como se pretende financiar la salud pública, debido a que los impuestos generados por la venta y consumo de alcohol y cigarrillos, se destinan para la salud, lo que nos lleva a una paradoja: es razonable pensar que a través del detrimento de la salud de las personas que consumen licores y cigarrillos, se intente solucionar los problemas de salud?, no es acaso la prevención y el no consumo de estas sustancias, lo que nos permite cultivar un mejor Estado de saúde?

Prevalence and awareness levels of color blindness among students of faculty of dentistry and dental prosthesis technology program.

Purpose: The aim of this study was to evaluate the prevalence and awareness levels of color blindness among students in a faculty of dentistry and dental prosthesis technology program in two different universities. Materials and methods: A survey of awareness of color blindness among 710 students (males: n=271; females: n=439) in the faculty of dentistry and dental prosthesis technology program of Gazi University and Ankara Medipol University in 2019-2021 was conducted. The color vision status of 442 of the students (males; n=155; females: n=287) was assessed using an online Ishihara color blindness test. The data obtained were subjected to statistical analysis using SPSS. Results: There was no statistically significant difference in the color blindness scores in terms of sex (males: 0.75±0.84; females: 0.64±0.75) (p=0.226). The color blindness scores of the dental prosthesis technology students were statistically higher than those of the faculty of dentistry students (p=0.028). Education year was significantly associated with a compromised ability to identify colors properly (p=0.040). There was no statistically significant difference in terms of awareness levels of color blindness according to the number of years of education (p>0.005). Conclusion: In terms of the prevalence of color blindness, 2.2% of faculty of dentistry and dental prosthesis technology students had a moderate-to-high level of color blindness. Students' awareness of their own color vision status was very low. The educational content of faculty of dentistry and dental prosthesis technology programs on color blindness should be enriched.

Prevalence of Dyschromatopsias in the Academic Community of a Medicine School Course / Prevalência de Discromatopsias na Comunidade Acadêmica de um Curso de Medicina

Dyschromatopsia is defined as an abnormality of color vision, a deficiency that can cause difficulties in the day-to-day of some careers in the health area, including medicine, as it makes clinical practice difficult and may lead to potential errors. The objective was identify the presence of Dyschromatopsias in the student and teaching community of UEMS Medicine School course and the repercussions they bring to the performance of activities related to medical activity. It is a quantitative, observational, cross-sectional and descriptive research. 160 individuals were evaluated, including Medicine School students and professors at the campus of UEMS - Campo Grande Unit, by reading pseudo-isochromatic slides from the Book of Ishihara. Data were tabulated in Excel and analyzed using non-parametric statistics. Of the 160 volunteers, 25 were professors (15.6%) and 135 students (84.3%). Most were female. Only 02 of the 58 volunteers (1.25%) surveyed, had color vision deficiency. Both patients with dyschromatopsia were already aware of their clinical conditions, and were classified in the research as having Deutan deficiency (green, red-green by Ishihara plates 16 and 17). The participants denied having a family history of this disease and both reported difficulties in the microscopies study and during medical prescriptions, due to the color of the pens to be used. The prevalence of Dyschromatopsias was 1.25%, and the 2 affected participants in the medical field already had knowledge of their disability. (AU)

Discromatopsia é definida como anormalidade da visão das cores, deficiência esta que pode causar dificuldades no dia-a-dia de algumas carreiras da área da saúde, incluindo medicina, pois dificulta a prática clínica e pode levar a potenciais erros. O objetivo foi identificar a presença de discromatopsias na comunidade discente e docente do curso de Medicina da UEMS e a repercussão que estas trazem para o desempenho das atividades relativas à atividade médica. Trata-se de uma pesquisa quantitativa, observacional, transversal e descritiva. Avaliou-se 160 indivíduos entre discentes e docentes de medicina do campus da UEMS ­ Unidade Campo Grande através da leitura de lâminas pseudo-isocromáticas do Livro de Ishihara. Dados foram tabulados em Excel e analisados via estatística não paramétrica. Dos 160 voluntários, 25 eram docentes (15,6%) e 135 discentes (84,3%), sendo que a maioria pertencia ao sexo feminino. Apenas 02 dos 58 voluntários (1,25%) pesquisados, apresentaram deficiência da visão de cores. Ambos os portadores de discromatopsia possuíam conhecimento de suas condições clínicas, e foram classificados na pesquisa como tendo deficiência Deutan (verde, vermelho-verde pelas placas 16 e 17 de Ishihara). Os participantes negaram ter histórico familiar deste acometimento e ambos referiram dificuldades no estudo das microscopias e durante as prescrições médicas, devido à cor das canetas a serem utilizadas. A prevalência das discromatopsias foi de 1,25%, e os 2 participantes afetados no meio médico já apresentavam conhecimento de sua deficiência. (AU)

Dyschromatopsia in multiple sclerosis reflects diffuse chronic neurodegeneration beyond anatomical landmarks.

To formulate and validate a dyschromatopsia linear regression model in patients with multiple sclerosis (MS). 64 MS patients (50 to formulate the model and 14 for its validation) underwent neurological (Expanded Disability Status Scale, EDSS), color vision (Farnsworth D15 test), and peripapillary retinal nerve fiber layer (pRNFL) and retinal evaluation with spectral-domain optical coherence tomography (SD-OCT). Neuroradiological examination permitted to obtain brain parenchymal fraction (BPF) and cervical spinal cord volume (SC). Ophthalmic parameters were calculated as the average of both non-optic neuritis (ON) eyes, and in case the patient had previous ON, the value of the fellow non-ON eye was taken. The influence of sex, age, disease duration, and history of disease-modifying treatment (first- or second-line DMT) was tested as covariables that could influence color perception. Color confusion index (log CCI) correlated with pRNFL (r = - 0.322, p = 0.009), ganglion cell layer (GCL, r = - 0.321, p = 0.01), BPF (r = - 0.287, p = 0.021), SC volume (r = - 0.33, p = 0.008), patients' age (r = 0.417, p = 0.001), disease duration (r = 0.371, p = 0.003), and EDSS (r = 0.44, p = 0.001). The following CCI equation was obtained: log (CCI) = 0.316-0.224 BPF - 0.187 SC volume (mm3) + 0.226 age (years) + 0.012 disease duration (years) - 0.372 GCL (µm). CCI correlates with MS clinical and paraclinical established biomarkers suggesting chronic diffuse neurodegeneration in MS operates at brain, SC, and retina linking all three compartments. Color vision outcome can be calculated through the aforementioned variables for clinical and research purposes.

Evaluation of the color vision acuity pattern of undergraduates of health courses in a Brazilian university / Avaliação do padrão de acuidade visual para cores de acadêmicos da área de saúde em Universidade brasileira

ABSTRACT Objective: The goal of the study is to analyze the color vision acuity pattern in undergraduates of health courses and to discuss the impact of these diseases in this population. Color deficiencies interfere significantly in the daily routine of professionals in the health area who need to discern different color hues in several situations of their everyday practice. Methods: Sixty-four volunteers, undergraduates of health courses of the Federal University of Alfenas (UNIFAL-MG), participated in the study. One man was excluded because he did not fit the inclusion criteria. Two groups were analyzed according to sex with the Farnsworth Munsell 100-Hue test. Results: There were no significant differences between the eyes and between the groups analyzed. The color vision acuity pattern is between 35 and 40, according to the Total Error Score. The gender issue does not influence the general pattern of the color vision acuity of the health courses undergraduates when those with color vision disorders are removed. Conclusion: Screenings and guidance should be given to undergraduates of health courses so that, aware of their condition of presenting some type of color disorder, they shall make the appropriate decision on which career to follow so that such limitation does not interfere with the quality of their daily life.

RESUMO Objetivo: O objetivo do estudo é analisar a acuidade visual média para cores de estudantes da área de saúde e discutir o impacto das doenças que a afetam nessa população. Deficiências cromáticas interferem de forma significativa no dia a dia de profissionais da área da saúde que necessitam de discernir diferentes matizes em diversas situações de sua prática profissional. Métodos: Participaram da pesquisa 64 voluntários, estudantes de cursos da área de saúde da Universidade Federal de Alfenas, sendo que 1 homem foi excluído por não se adequar aos critérios de inclusão. Dois grupos foram analisados, de acordo com o sexo, com o teste de Farnsworth Munsell 100-Hue. Resultados: Não houve diferenças significativas entre os olhos e entre os grupos analisados. O padrão de visão de cores encontra-se entre 35 e 40, de acordo com a Pontuação do Erro Total. A questão de gênero não influencia no padrão geral da qualidade de visão de cores de estudantes da área de saúde, quando retirados aqueles que apresentam distúrbios da visão cromática. Conclusão: Devem ser realizadas triagens e orientação para estudantes de cursos da área de saúde para que, cientes da sua condição de apresentar algum tipo de distúrbio cromático, possam tomar a decisão adequada sobre qual carreira seguir para que tal limitação não interfira na qualidade de sua vida diária.

The impacts of abnormal color vision on people's life: an integrative review.

BACKGROUND: This article shows an integrative review on the impact that abnormal color vision may have on the daily routine of individuals. PURPOSE: We followed the PRISMA guidelines for reviews and carried out researches in four databases (Pubmed, Lilacs, Scopus, and Web of Science) using keywords related to the impact of abnormal color vision. METHOD: Initially, 805 articles were retrieved and after a first filtering stage, we selected 74 articles for a detailed analysis of the abstracts in which it was found that a total of 20 studies were in fact related to the topic of this review. We then read the selected studies in full and those included in the final selection were analyzed and categorized into specific topic groups of findings. Seven categories were created in total: "impact on daily routine activities", "occupational impact", "impact on product choice motivation", "emotional impact", "impact on school or professional qualification", "impact on self-care and health", and "advantages". RESULTS: From the definition of these categories we could understand that people with some degree of color vision loss face challenges in different aspects of their daily life, especially in their work activities. Still, the amount of research and hence technical support which could be offered to this population is restricted. Additionally, the scarce availability of publications on the topic and the fact that they include very specific groups of people, such as drivers and medical students, allow us to draw only partial conclusions about the all possible impacts yield by such perceptual difference since they observe the impact of the color-vision deficiency in their daily routine from a specific and precise point of view. CONCLUSIONS: A broader view of the impact of this problem on the daily life of its carriers is fundamental for implementing strategies that allow such people to be included in all sorts of activities or for the impact of this sensory change to be decreased or treated in a way that would reduce the detrimental impacts.

[Evaluation of color perception in individuals addicted to narcotic substances in the Farnsworth-Munsell 100-Hue test]. / Ocena testem Farnswortha-Munsella 100-Hue percepcji barw u osób uzaleznionych od narkotyków.

BACKGROUND: The aim of the study was to assess color perception in the Farnsworth-Munsell 100-Hue test in individuals addicted to narcotic substances, and to analyze the acquired color vision disorders, depending on the duration of addiction and abstinence. MATERIAL AND METHODS: Ninety-five persons were qualified for the study. All the subjects were divided into 3 groups. Group I (drug addicts) comprised 45 individuals addicted to narcotic substances and nicotine. Group II (smokers) consisted of 30 individuals addicted only to nicotine, and group III (abstinents) included 20 individuals free of addictions. In all the study groups anamnesis, survey, standard ophthalmological examination and the Farnsworth-Munsell 100-Hue test were performed. RESULTS: In the Farnsworth-Munsell 100-Hue test the mean values of total error score (TES) for the purposes of the analysis, expressed in the values of square root (√TES), proved to be significantly higher in group I than in the two other groups (p < 0.001). In group I, the √TES values exceeding critical values of age norms occurred significantly more frequently than in groups II (p < 0.01) and III (p < 0.05). A positive correlation between duration of addiction and the √TES values was indicated (ρ = 0.234, p < 0.05). The longer was the period of abstinence, the lower were the √TES values, indicating the improved ability to distinguish between colors. CONCLUSIONS: The Farnsworth-Munsell 100-Hue test proved useful in the detection and assessment of acquired dyschromatopsy induced by narcotic substances. The observed disorders appeared to be dependent on the duration of addiction and abstinence. Med Pr 2016;67(6):777-785.

Acquired Color Vision Defects and Hexane Exposure: A Study of San Francisco Bay Area Automotive Mechanics.

Occupational exposure to solvents, including n-hexane, has been associated with acquired color vision defects. Blue-yellow defects are most common and may be due to neurotoxicity or retinal damage. Acetone may potentiate the neurotoxicity of n-hexane. We present results on nonhexane solvent and hexane exposure and color vision from a cross-sectional study of 835 automotive repair workers in the San Francisco Bay Area, California (2007-2013). Cumulative exposure was estimated from self-reported work history, and color vision was assessed using the Lanthony desaturated D-15 panel test. Log-binomial regression was used to estimate prevalence ratios for color vision defects. Acquired color vision defects were present in 29% of participants, of which 70% were blue-yellow. Elevated prevalence ratios were found for nonhexane solvent exposure, with a maximum of 1.31 (95% confidence interval (CI): 0.86, 2.00) for blue-yellow. Among participants aged ≤50 years, the prevalence ratio for blue-yellow defects was 2.17 (95% CI: 1.03, 4.56) in the highest quartile of nonhexane solvent exposure and 1.62 (95% CI: 0.97, 2.72) in the highest category of exposure to hexane with acetone coexposure. Cumulative exposures to hexane and nonhexane solvents in the highest exposure categories were associated with elevated prevalence ratios for color vision defects in younger participants.

Styrene-associated health outcomes at a windblade manufacturing plant.

BACKGROUND: Health risks of using styrene to manufacture windblades for the green energy sector are unknown. METHODS: Using data collected from 355 (73%) current windblade workers and regression analysis, we investigated associations between health outcomes and styrene exposure estimates derived from urinary styrene metabolites. RESULTS: The median current styrene exposure was 53.6 mg/g creatinine (interquartile range: 19.5-94.4). Color blindness in men and women (standardized morbidity ratios 2.3 and 16.6, respectively) was not associated with exposure estimates, but was the type previously reported with styrene. Visual contrast sensitivity decreased and chest tightness increased (odds ratio 2.9) with increasing current exposure. Decreases in spirometric parameters and FeNO, and increases in the odds of wheeze and asthma-like symptoms (odds ratios 1.3 and 1.2, respectively) occurred with increasing cumulative exposure. CONCLUSIONS: Despite styrene exposures below the recommended 400 mg/g creatinine, visual and respiratory effects indicate the need for additional preventative measures in this industry.

Color-discrimination threshold determination using pseudoisochromatic test plates.

We produced a set of pseudoisochromatic plates for determining individual color-difference thresholds to assess test performance and test properties, and analyzed the results. We report a high test validity and classification ability for the deficiency type and severity level [comparable to that of the fourth edition of the Hardy-Rand-Rittler (HRR) test]. We discuss changes of the acceptable chromatic shifts from the protan and deutan confusion lines along the CIE xy diagram, and the high correlation of individual color-difference thresholds and the red-green discrimination index. Color vision was tested using an Oculus HMC anomaloscope, a Farnsworth D15, and an HRR test on 273 schoolchildren, and 57 other subjects with previously diagnosed red-green color-vision deficiency.

Os "daltônicos" e suas dificuldades: condição negligenciada no Brasil? / Colorblind individuals and their difficulties: a neglected condition in Brazil?

O termo "discromatopsia congênita" ("daltonismo") designa os defeitos de visão cromática, cuja taxa de prevalência entre homens é de 6% a 10%. Este estudo investigou as percepções de discromatópsicos quanto ao diagnóstico, suas dificuldades e mecanismos de enfrentamento do problema. Foi realizada pesquisa com metodologia clínica-qualitativa, na qual participaram 13 homens universitários, compondo uma amostra intencional, fechada por saturação teórica. Os dados foram coletados por meio de entrevistas individuais semiestruturadas. Os relatos foram gravados, transcritos e compuseram um corpus investigado pela técnica de análise de conteúdo categorial temática. Os participantes relataram dificuldades objetivas e subjetivas com materiais didáticos, práticas de ensino, interações com colegas e professores, já a partir do início da socialização secundária. Posteriormente, foram referidas, sobretudo, dificuldades relacionadas à decodificação de sinais de trânsito. Os participantes desenvolveram algumas habilidades de enfrentamento dessas dificuldades, mas aguardam ações a serem desencadeadas pelos poderes públicos, dirigidas ao atendimento das suas necessidades sociais, educacionais e trabalhistas...

The term congenital dyschromatopsia (colorblindness) refers to color vision genetic deficiency, whose prevalence rate is 6 to 10% among men. This study investigated the perceptions of subjects with congenital dyschromatopsia regarding diagnosis, their difficulties and coping mechanisms of the condition. This research was carried out using a clinical-qualitative methodology, in which 13 male university students took part, consisting of a purposeful sample concluded by theoretical saturation. Data were collected by conducting semi-structured individual interviews. Reports were recorded, transcribed and a corpus was made investigated by the technique of thematic categorical content. Participants reported objective and subjective difficulties with didactic material, teaching practice, interactions with colleagues and teachers, already from the beginning of their secondary socialization. Subsequently, difficulties in decoding traffic lights were mainly reported. Participants developed some coping skills to face these challenges, but await actions to be initiated by the Brazilian government to meet their social, education and labor needs...

Clinical features of 11 patients with late-onset cone dystrophy / 中华眼底病杂志

Objective To observe the clinical features of late-onset cone dystrophy (LOCD).Methods Eleven patients (15 eyes) of LOCD were enrolled in this study.The patients included 7 males and 4 females.The age was ranged from 50 to 79 years,with a mean age of 60.2 years.There was no obvious photophobia and hemeralopia.The visual acuity was less than or equal to 0.05 in 4 eyes,0.06-0.2 in 5 eyes,0.3-1.0 in 6 eyes.Visual acuity,slit lamp microscope,indirect ophthalmoscopy,flash electroretinogram (FERG) and multifocal electroretinograms (mfERG) were examined for all patients,fundus fluorescein angiography (FFA) for 11 eyes,optical coherence tomography (OCT) and chromoptometry for 6 eyes.Results There were 6 eyes with red/green color blindness,2 eyes with color weakness.Normal fundus was found in 11 eyes,while derangement of macular pigment epithelial in 4 eyes.FFA results showed that there were 5 eyes with normal fundus,4 eyes with blocked fluorescent spots,2 eyes with oval macular atrophy.FERG results showed that in cone response,the amplitude was lower in 6 eyes (including mild decrease in 4 eyes,moderate decrease in 1 eye and severe decrease in 1 eye) ; both in cone and rod response,the amplitude were lower in 9 eyes.mfERG results showed that central part of the cone (less than 7 degree from the center) was damaged in 5 eyes,both central and peripheral part (outside of 7 degree) of the cone were damaged in 10 eyes.OCT results showed that pigment derangement in 3 eyes,fovea was normal in 8 eyes,thinned in 5 eyes (foveal thickness was 83-111 μm).Conclusions The fundus manifestations of LOCD patients are variable,from normal fundus to oval macular atrophy.FERG is abnormal,which mainly in cone response at early stage and both in cone and rod response at late stage.Central part and (or) peripheral part of the cone are abnormal by mfERG.

Neuropatia óptica dominante associada à hipoacusia e apresentação tardia / Kjer's disease associated with hypoacusis and late clinical manifestation

A neuropatia óptica de Kjer, ou atrofia óptica dominante, é a mais frequente das neuropatias ópticas familiares. Trata-se de uma atrofia óptica de caráter autossômico dominante que se dá por uma alteração no gene OPA1, no cromossomo 3q28, com penetrância de 98% Apenas 15% dos casos possuem acuidade visual de 0,1 ou pior, apresentando ainda diferentes graus de atrofia do disco. Este relato objetiva descrever as características genéticas e clínicas da doença, bem como apresentar medidas de aconselhamento familiar. Para isso, será relatado um caso clínico de atrofia óptica dominante no qual se constata perda acentuada da acuidade visual, início de manifestações atipicamente tardias e hipoacusia bilateral.

The optic neuropathy of Kjer, or dominant optic atrophy, is the most common among optic neuropathies. iI is an optical atrophy of dominant autosomal character that is caused by an alteration in the gene on chromosome 3q28 with OPA1 penetration of 98% Only 15% of cases have visual acuity of 0.1 or worse, while demonstrating different grades of atrophy of the disc. This report aims to describe the genetic and clinical characteristics, and methods of family counseling through the presentation of a case of dominant optic atrophy with severe loss of visual acuity, together with the onset of unusually late and bilateral hearing loss.

Color damage in patients with idiopathic optical neuritis after the treatment / 中华眼底病杂志

Objective To detect the color damage in patients with idiopathic optical neuritis (ION) after the treatment. Methods A total of 26 ION patients (44 eyes) with ION whose visual acuity were above 1. 0 were collected. All the patients had undergone the treatment of incretion and had the visual acuity more than 1. 0 after the treatment. The results of MRI and blood examination were normal. Another 24 healthy persons were selected as the normal control. Total error scores (TES) and each error score of red, green and blue were measured via Farnsworth Munsell-100 hue tester. The TES origin scores and their square roots were used for a statistical analysis. The results of the two groups were compared. Results There were significant differences in TES and its square roots between ION group and the normal control group (t=3.079,3. 133;P = 0. 0033,0. 0026). The differences in the level of error scores of each color between the tow groups were not significant (t = 1. 91, 1.15, 1.62;P = 0.061, 0.26, 0.11);but the differences in the square roots of red color between the two groups were statistically (t=2. 21, P = 0. 031).Conclusion After the treatment, the visual acuity of ION patients increases, but the color damage still exist;red color damage happens first.

Acquired color vision and visual field defects in patients with ocular hypertension and early glaucoma.

PURPOSE: To study acquired color vision and visual field defects in patients with ocular hypertension (OH) and early glaucoma. METHODS: In a prospective study we evaluated 99 eyes of 56 patients with OH without visual field defects and no hereditary color deficiencies, followed up for 4 to 6 years (mean = 4.7 +/- 0.6 years). Color vision defects were studied using a special computer program for Farnsworth-Munsell 100 hue test and visual field tests were performed with Humphrey analyzer using program 30-2. Both tests were repeated every six months. RESULTS: In fifty-six eyes, glaucomatous defects were observed during the follow-up period. There was a statistically significant difference in total error score (TES) between eyes that eventually developed glaucoma (157.89 +/- 31.79) and OH eyes (75.51 +/- 31.57) at the first examination (t value 12.816, p < 0.001). At the same time visual field indices were within normal limits in both groups. In the glaucomatous eyes the earliest statistical significant change in TES was identified at the first year of follow-up and was -20.62 +/- 2.75 (t value 9.08, p < 0.001) while in OH eyes was -2.11 +/- 4.36 (t value 1.1, p = 0.276). Pearson's coefficient was high in all examinations and showed a direct correlation between TES and mean deviation and corrected pattern standard deviation in both groups. CONCLUSION: Quantitative analysis of color vision defects provides the possibility of follow-up and can prove a useful means for detecting early glaucomatous changes in patients with normal visual fields.

Associação de alterações cromáticas e uso de anticoncepcionais orais / Association of color vision alterations and the use of oral contraceptives

OBJETIVOS: Avaliar, em mulheres em idade fértil, a associação entre o uso de anticoncepcionais (ACO) orais de baixa dosagem e alterações na visão de cores. MÉTODOS: Foram incluídas no estudo 30 mulheres, 16 usuárias de ACO oral há menos de cinco anos (Grupo I) e 14 usuárias de anticoncepcionais orais há mais de cinco anos (Grupo II). Foram utilizados os testes de Ishihara, City University Color Vision Test e D 15 dessaturado. RESULTADOS: Não foram observados padrões característicos de distúrbio da visão cromática em nenhum teste dos dois grupos. CONCLUSÃO: Na amostra estudada, o uso de ACO oral de baixa dosagem não influenciou a visão de cores, independente do tempo de uso.

PURPOSE: To evaluate the association between oral low-dose contraceptives and color vision alterations. METHODS: Were included in the study 30 women, sixteen used oral contraceptive for less than five years (Group I) and 14 used it for more than five years (Group II). The Ishihara, City University Color Vision Test, and the D 15 desaturated tests were used. RESULTS: No characteristic alterations in the chromatic perception were found in any of the groups. CONCLUSION: In the studied sample, low-dose oral contraceptive has not influenced color vision, independent of the time of use.

Eficiência dos testes cromáticos de comparação na discromatopsia hereditária: relato de casos / Efficiency of color vision tests in hereditary dyschromatopsia: case report

As autoras relatam dois casos de discromatopsia hereditária e discutem a eficiência dos testes cromáticos no diagnóstico de uma discromatopsia. Os pacientes foram reprovados em diferentes concursos públicos federais por apresentarem diagnóstico de discromatopsia hereditária pelo teste de Ishihara. Submeteram-se a exame oftalmológico, com resultados dentro da normalidade. Procuraram novo parecer para melhor caracterização da sua discromatopsia. Não havia sintomas relacionados à deficiência. Os testes Panel D15 simples, D28 de Roth mostraram-se normais e o D15 dessaturado confirmou deutanomalia no caso 1. No segundo caso os testes de comparação mostraram alterações sem significado cromático. O diagnóstico de uma discromatopsia é muito complexo. As autoras destacam a importância de realização de testes de visão cromática complementares ao teste de Ishihara para diagnóstico de uma discromatopsia.

The authors describe two cases of hereditary dyschromatopsia and discuss the efficiency of the color vision tests. The patients were disapproved in different federal public examinations because Ishihara's test diagnosed hereditary dyschromatopsia. Ophthalmological evaluation was normal. No symptoms related to dyschromatopsia were presented. Panels D15 and Roth D 28 were normal. Desaturated D 15 showed deuteranomaly in case one. In the second case the comparative color vision tests showed nonspecific disorder. The diagnosis of dyschromatopsia is complex. The authors recommend comparative color vision tests to complement the Ishihara test for a better understanding of the color deficiency.