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?

Alteraciones en la visión cromáticas por agentes neurotóxicos en pacientes de 20 a 40 años / Visual chromatic alteration by neurotoxics in patients of 20 ­ 40 age / Alteracao visual cromática por neurotóxicos em pacientes de 20 a 40 anos

El estudio busca determinar las alteraciones de la visión cromática por gentes neurotóxicos en pacientes de 20 a 40 años en la parroquia Checa ­ Ecuador y cuál de ellas genera mayor vulnerabilidad en las células nerviosas fotorreceptoras de la retina. MATERIALES Y MÉTODOS: se realizó un estudio evaluativo - descriptivo de pruebas en donde participaron 54 personas de edades entre 20 a 40 años que pertenecen al programa social bachillerato acelerado y se les aplicó la historia clínica de detección para determinar si están dentro de los criterios de inclusión. A los 54 pacientes que cumplieron con el requisito, a parte del examen visual completo, se les aplicó el test de Farnsworth que es la prueba más certera y completa para el diagnóstico de las distintas alteraciones de la visión cromática. RESULTADOS: al realizar la tabulación de datos, se observa que la alteración cromática más frecuente es la deuteranomalía, y que el agente más neurotóxico para las células fotorreceptoras retinales, es el alcohol, afectando mayormente, a la población masculina de entre 31 a 35 años, el segundo neurotóxico más agresivo, es el cigarrillo, afectando a la misma población. CONCLUSIONES: se determina que los agentes neurotóxicos inciden directamente en el daño de fotorreceptores especializados al color, el daño puede ser imperceptible al principio, pero puede afectar al paciente principalmente en el desarrollo laboral, que es cuando el paciente cae en cuenta que está presentando una alteración cromática, la disminución de la exposición a los mismos, puede revertir el daño si la frecuencia no ha sido prolongada(AU)

The study seeks to determine the alterations of color vision by neurotoxic people in patients aged 20 to 40 years in the Czech parish - Ecuador and which of them generates greater vulnerability in the photoreceptor nerve cells of the retina. MATERIALS AND METHODS: an evaluative-descriptive study of tests was carried out in which 54 people between the ages of 20 and 40 who belong to the accelerated high school social program participated and the clinical history of detection was applied to them to determine if they were within the inclusion criteria. To the 54 patients who fulfilled the requirement, apart from the complete visual examination, the Farnsworth test was applied, which is the most accurate and complete test for the diagnosis of the different color vision alterations. RESULTS: when performing the data tabulation, it is observed that the most frequent chromatic alteration is deuteranomaly, and that the most neurotoxic agent for retinal photoreceptor cells is alcohol, affecting mainly the male population between 31 and 35 years of age. The second most aggressive neurotoxic is cigarettes, affecting the same population. CONCLUSIONS: it is determined that neurotoxic agents directly affect the damage of specialized photoreceptors to color, the damage may be imperceptible at first, but it can affect the patient mainly in work development, which is when the patient realizes that he is presenting a chromatic alteration, decreasing the exposure to them, can reverse the damage if the frequency has not been prolonged.(AU)

O estudo visa determinar as alterações da visão de cores por pessoas neurotóxicas em pacientes de 20 a 40 anos na freguesia checa-Equador e qual delas gera maior vulnerabilidade nas células nervosas fotorreceptoras da retina. MATERIAIS E MÉTODOS: foi realizado um estudo descritivo-avaliativo de testes em que participaram 54 pessoas entre 20 e 40 anos que pertencem ao programa social do ensino médio acelerado e foi aplicado o histórico clínico de detecção para determinar se estavam dentro dos critérios de inclusão. Aos 54 pacientes que preencheram o requisito, além do exame visual completo, foi aplicado o teste de Farnsworth, que é o teste mais preciso e completo para o diagnóstico das diferentes alterações na visão de cores. RESULTADOS: ao realizar a tabulação dos dados, observa-se que a alteração cromática mais frequente é a deuteranomalia, e que o agente mais neurotóxico para as células fotorreceptoras da retina é o álcool, afetando principalmente a população masculina entre 31 e 35 anos. O segundo neurotóxico mais agressivo é cigarros, afetando a mesma população. CONCLUSÕES: é determinado que os agentes neurotóxicos afetam diretamente o dano dos fotorreceptores especializados à cor, o dano pode ser imperceptível a princípio, mas pode afetar o paciente principalmente no desenvolvimento do trabalho, que é quando o paciente percebe que está apresentando uma alteração cromática, diminuindo a exposição a eles pode reverter o dano se a frequência não for prolongada. (AU)

A Comparison of Nagel Anomaloscope and Farnsworth Munsel 100-hue in Congenital Color Vision Deficiency

PURPOSE: To compare the classification and severity of congenital color vision deficiency using a Nagel anomaloscope and Farnsworth Munsel 100-hue Test (FM 100-hue).METHODS: A total of 394 eyes of 197 patients diagnosed with congenital color vision deficiency were included. Examinations using a Nagel anomaloscope and FM 100-hue were performed, and color vision abnormalities were classified as a protan color defect or deutan color defect by each test, and the degrees of color vision abnormalities were compared.RESULTS: The tests showed 64.3% (p < 0.001) agreement in the classification of color vision deficiencies. The Nagel anomaloscope was able to classify all cases, whereas 143 eyes (36.3%) could not be classified using the FM 100-hue test. In the case of the same type of color vision abnormality in both eyes, 196 cases (99.5%) using the Nagel anomaloscope and 111 cases (56.3%) using the FM 100-hue were observed. Regarding the degree of color defect, there was a moderate positive correlation between the two tests (r = 0.43; p < 0.001). There were no significant differences in the total error scores between mild anomalous trichromacy and severe anomalous trichromacy as assessed using FM 100-hue (p = 0.087).CONCLUSIONS: The Nagel anomaloscope was a more appropriate test for discerning the degree of color defect and binocular classification. In severity assessments, there was a moderate positive correlation between the two test methods. However, there were no significant differences in the total error scores between mild anomalous trichromacy and severe anomalous trichromacy as assessed using FM 100-hue. Therefore, it was difficult to perform severity classification using the Nagel anomaloscope based on the total error score of the FM 100-hue test.

Síndrome de Wolfram - Diagnóstico clínico de condição rara multissistêmica / Wolfram syndrome - Clinical diagnosis of rare multisystemic condition

Resumo A Síndrome de Wolfram consiste em uma patologia neurodegenerativa de caráter genético, também conhecida pela sigla DIDMOAD que traduz os principais achados dessa doença, Diabetes Insipidus, Diabetes Mellitus, Atrofia Óptica e Surdez. O artigo visa relatar ocaso de um paciente diagnosticado clinicamente com essa síndrome em um ambulatório geral de oftalmologia. Tendo em vistaque os pacientes portadores dessa alteração genética apresentam mais de um par craniano afetado e quadro clínico sem históricode meningite ou outras alterações neurológicas, tem-se que pensar em alterações raras, como é o caso dessa síndrome. A partir dodiagnóstico, aplicou-se o questionário WRUS em consulta, o qual permitiu a comparação do paciente abordado com dados obtidosinternacionalmente disponíveis na literatura.

Abstract Wolfram Syndrome consists of a neurodegenerative pathology of genetic character, also known by the acronym DIDMOAD that translates the main findings of this disease, Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. The article report the case of a patient diagnosed clinically with this syndrome in a general ophthalmology out patient clinic. Considering that patients with this genetic alteration have more than one cranial nerve affected by the disease and clinical history without meningitis or other neurological alterations, one has to think about rare alterations, as is the case with this syndrome. From the diagnosis, the WRUS questionnaire was applied in consultation, which all owed the comparation of the patient with concepts obtained internationally available in the literature.

Catarata e a expressao cromática na obra de Monet / Cataract and chromatic expression in Monet's work

Resumo Por conta de uma doença ocular, a obra de Monet foi analisada por múltiplas facetas, incluindo o reflexo da deterioração de sua visão nos seus trabalhos, motivo deste trabalho de revisão. Tendo como referência este panorama, propõe-se aqui pensar, por meio de algumas obras marcantes da biografia de Monet, a doença ocular catarata e o seu papel na história de vida deste pintor.

Abstract Due to the ocular disease, Monet's work was analyzed by multiple facets, including the reflection of the deterioration of his vision in his works, reason for this work of revision. With reference to this panorama, it is proposed here to think, by means of some remarkable works of the biography of Monet, the ocular cataract disease and the paper of this in the history of this painter's life.

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.

A Case of Posterior Ischemic Optic Neuropathy Accompanied by Carotid Artery Plaque

PURPOSE: To report a case of posterior ischemic optic neuropathy accompanied by carotid artery plaque in a patient with retrobulbar optic neuritis. CASE SUMMARY: A 48-year-old man visited our clinic complaining of headache, decreasing visual acuity and defect of inferior visual field in his left eye for 3 days. The best corrected visual acuity was 1.0 in the right eye and 0.1 in the left eye. The anterior segment state, intraocular pressure, fundus examination and optical coherence tomography were normal in both eyes. Relative afferent pupillary defect, color vision deficiency and total scotoma were observed in his left eye. The results of the laboratory test and brain magnetic resonance imaging were normal. He was discharged from the hospital after 3 days of systemic steroid treatment on the basis of retrobulbar optic neuritis. A week later, fluorescent angiography and carotid ultrasonography were performed because of his history memory loss and left upper limb weakness before admission. A focal filling defect of the peripapillary area was found on fluorescent angiography. A plaque with a thickness of 1.9 mm and a length of 1.4 cm was found on carotid ultrasonography. After 6 months, the best corrected visual acuity was 0.4 in the left eye and the visual field showed a partially improved defect. CONCLUSIONS: Fluorescent angiography is recommended for potential posterior ischemic optic neuropathy in patients with retrobulbar optic neuritis, even though it is rare. Carotid ultrasonography is useful in finding atherosclerosis to prevent stroke or cardiovascular disease if ischemic cause is suspected on fluorescent angiography.

Triagem para distúrbios visuais em escolares no município de Campo Grande, Mato Grosso do Sul, Brasil / Screening for visual disturbances in schoolchildren in the city of Campo Grande, Mato Grosso do Sul, Brazil

Objetvos: Verificar a ocorrência de alterações visuais em escolares de uma instituição filantrópica do município de Campo Grande, Mato Grosso do Sul, Brasil. Métodos: Foi realizado um estudo transversal com escolares de seis a 12 anos de idade, de ambos os sexos, que frequentavam uma instituição filantrópica no ano de 2012. Para a triagem visual foi utilizado o teste de Ishihara e a leitura da escala optométrica de Snellen. Posteriormente, os escolares com resultado alterado foram referenciados para avaliação com especialista em oftalmologia. Resultados: Foram incluídos no estudo 94 escolares, entre os quais 18 apresentaram alteração na triagem visual, sendo cinco com suspeita de discromatopsia e 13 com baixa acuidade visual segundo a Escala de Snellen. Onze escolares compareceram para consulta com especialista, sendo três por suspeita de discromatopsia e o oito por alteração da acuidade visual. Após a avaliação oftalmológica, verificou-se que, dos escolares com suspeita de discromatopsia, um apresentou dúvida quanto ao diagnóstico positivo. No tocante aos escolares triados por alteração da acuidade visual, dois apresentaram déficit visual. Conclusões: Os resultados demonstraram que embora uma parcela importante de escolares apresentasse alteração visual na triagem, a alteração não foi confirmada na maioria das avaliações oftalmológicas. Estes achados salientam a importância da triagem para detectar alterações oculares, desde que seguida por avaliações oftalmológicas, para o correto diagnóstico e orientação.

Aims: To investigate the occurrence of visual disturbances in schoolchildren from a philanthropic institution in the city of Campo Grande, Mato Grosso do Sul, Brazil. Methods: A cross-sectional study was conducted with students aged six to 12 years, both male and female, who attended a philanthropic institution in 2012. The Ishihara test and the Snellen chart were used for visual screening. Later, those students with abnormal results were referred to a specialist. Results: Ninety-four schoolchildren were included in the study. Eighteen were found by the visual screening to have some impairment: suspected dyschromatopsia in five and poor visual acuity in 13, according to the Snellen chart. Eleven students, three with suspected dyschromatopsia and eight with poor visual acuity, went to see a specialist. After ophthalmologic evaluation, one child with suspected dyschromatopsia was unsure about the positive diagnosis. Among the students with abnormal visual acuity, two presented with visual deficit. Conclusions: The results show that, although a considerable number of students presented with some type of visual problem during the visual screening, impairment was not confirmed by most of the ophthalmologic evaluations. These findings highlight the importance of screening for the detection of visual disorders, provided that it is followed by ophthalmologic assessments for proper diagnosis and guidance.

A Case of Joubert Syndrome Accompanied with Retinal Abnormality

PURPOSE: Joubert syndrome is a rare disorder which affects the cerebellum and the brain stem. Herein, we report a case of Joubert syndrome accompanied with retinal abnormality. CASE SUMMARY: A 9-year-old female visited our hospital with chief complaints of low vision in both eyes, nystagmus, and lack of gaze movement. The best-corrected visual acuity in her right eye was 20/80 and in the left 20/80 and heterotropia was not observed. She appeared to have incomplete total color blindness on the color vision test. The anterior segment test showed no abnormal findings other than diffuse pigmentation and degeneration of the peripheral retina, vascular attenuation, and pale optic disc in both eyes on fundus examination. The patient showed overall developmental delay and decreased muscle tension, but genetic and congenital metabolic disease tests were normal. The molar tooth sign of the midbrain, defect in the lower part of the cerebellum and dilatation of the fourth ventricle were observed on magnetic resonance imaging. CONCLUSIONS: Appropriate evaluation of retinitis pigmentosa and visual function should be performed in Joubert syndrome patients.

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...

The relationship between hypothyroidism and color vision deficiency among Filipino adults seen at the Makati Medical Center

OBJECTIVE: To determine the relationship between hypothyroidism and color vision deficiency among Filipinos ages 20-60 yearsDESIGN AND METHODS: A cross-sectional study was performed on 91 biochemically hypothyroid and euthyroid patients seen at the Makati Medical Center from July to December 2013. All subjects underwent the Ishihara color test, followed by the Farnsworth-Munsell D15 test if this was positive. The patient who tested positive in the Farnsworth-Munsell D15 test was referred to an ophthalmologist to rule out any anatomic problem, and was excluded from the study if found to have any. Fisher's exact test assessed the significant correlation between hypothyroidism and color vision deficiency. A p-value less than 0.05 was considered significant.RESULTS: Of the 91 patients that were included in the study, the average age was 42 years, majority (87%) were females, and 41% were biochemically hypothyroid. All euthyroid patients (100%) had normal color vision, while one hypothyroid patient (3.0%) tested positive for color vision deficiency (p-value 0.407).CONCLUSION: Based on this study, the hypothyroid state of the patients had no effect on their color vision, unlike those seen in rodents, probably because mature human cones are not as easily affected by changes in thyroid hormone levels.

Internal Carotid Artery Aneurysm Presenting with Unilateral Nasal Hemianopsia

PURPOSE: To report a case of unilateral nasal hemianopsia caused by a large internal carotid artery aneurysm. CASE SUMMARY: A 56-year-old female presented with large cupping in the left optic nerve head detected incidentally during a routine check-up. She had no underlying systemic disease except hypertension. The best corrected visual acuity was 20/20 in both eyes and a slit-lamp examination showed no abnormal findings. Ophthalmoscopy showed cup/disc ratios of 0.6 in the right eye and 0.75 in the left eye. Relative afferent papillary defect or color vision defect was not observed. A Humphrey visual-field test indicated unilateral nasal hemianopsia in the left eye. Brain CT and angiography revealed a large 2.2-cm aneurysm on the left internal carotid artery. CONCLUSIONS: Internal carotid artery aneurysm should be considered as a possible cause of unilateral nasal hemianopsia in patients without intraocular lesion.

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.

Cerebral Achromatopsia After Posterior Cerebral Artery Infarction

Cerebral achromatopsia, which refers to a loss of color vision, is a rare complication of posterior circulation stroke. We report two patients who presented with achromatopsia and dyschromatopsia (incomplete form of achromatopsia) respectively after acute posterior cerebral artery infarction. Lingual and fusiform gyri within the occipito-temporal area are known to be responsible for color perception.

Recollections of J.B.S. Haldane, with special reference to Human Genetics in India.

This paper is a brief account of the scientific work of J.B.S. Haldane (1892–1964), with special reference to early research in Human Genetics. Brief descriptions of Haldane's background, his important contributions to the foundations of human genetics, his move to India from Great Britain and the research carried out in Human Genetics in India under his direction are outlined. Population genetic research on Y-linkage in man, inbreeding, color blindness and other aspects are described.

Treatment of Compressive Optic Neuropathy by Recurred Maxillary Cancer Using Stereotactic Radiosurgery: A Case Report

PURPOSE: To report a case of a female patient treated with stereotactic radiosurgery for compressive optic neuropathy by recurred maxillary cancer. CASE SUMMARY: A 51-year-old woman with a history of maxillary cancer presented with decreased visual acuity and visual field and color vision defects in the right eye. The CT scan revealed a wide spread mass along the ethmoid sinus, orbit, optic canal, and skull base. Under the impression of compressive optic neuropathy, stereotactic radiosurgery was performed. A cumulative dose of 39 Gy in 3 daily fractions of 13 Gy was administered to the mass. After 10 days, visual acuity, color vision, and visual field improved and were maintained after a 2 month follow-up. CONCLUSIONS: Stereotactic radiosurgery could be another treatment option for patients with compressive optic neuropathy caused by a malignant tumor.

Genetics for the ophthalmologist

The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument [skin, hair and nails], nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling

Embedded system design of color-blind image processing / 中国医疗器械杂志

An ARM-based embedded system design schemes is proposed for the color-blind image processing system. The hardware and software of the embedded color-blind image processing system are designed using ARM core processor. Besides, a simple and convenient interface is implemented. This system supplies a general hardware platform for the applications of color-blind image processing algorithms, so that it may bring convenience for the test and rectification of color blindness.

Identification of a novel dynamic red blindness in human by event-related brain potentials / 华中科技大学学报（医学）（英德文版）

Dynamic color is an important carrier that takes information in some special occupations. However, up to the present, there are no available and objective tests to evaluate dynamic color processing. To investigate the characteristics of dynamic color processing, we adopted two patterns of visual stimulus called "onset-offset" which reflected static color stimuli and "sustained moving" without abrupt mode which reflected dynamic color stimuli to evoke event-related brain potentials (ERPs) in primary color amblyopia patients (abnormal group) and subjects with normal color recognition ability (normal group). ERPs were recorded by Neuroscan system. The results showed that in the normal group, ERPs in response to the dynamic red stimulus showed frontal positive amplitudes with a latency of about 180 ms, a negative peak at about 240 ms and a peak latency of the late positive potential (LPP) in a time window between 290 and 580 ms. In the abnormal group, ERPs in response to the dynamic red stimulus were fully lost and characterized by vanished amplitudes between 0 and 800 ms. No significant difference was noted in ERPs in response to the dynamic green and blue stimulus between the two groups (P>0.05). ERPs of the two groups in response to the static red, green and blue stimulus were not much different, showing a transient negative peak at about 170 ms and a peak latency of LPP in a time window between 350 and 650 ms. Our results first revealed that some subjects who were not identified as color blindness under static color recognition could not completely apperceive a sort of dynamic red stimulus by ERPs, which was called "dynamic red blindness". Furthermore, these results also indicated that low-frequency ERPs induced by "sustained moving" may be a good and new method to test dynamic color perception competence.

A Case of Kallmann's Syndrome with Frontal Lobe Atrophy and Mental Retardation

Kallmann's syndrome is a rare condition, and this is defined as hypogonadotropic hypogonadism and anosmia or hyposmia. The syndrome may be associated with cleft lip, cleft palate, color blindness, skeletal abnormalities, renal agenesis, sensory neural hearing loss, obesity, etc. About 10 cases of Kallmann's syndrome have been reported in Korea, but there are no reports on cases of Kallmann's syndrome with atrophy of the frontal lobe, severe mental retardation and unilateral renal agenesis. We experienced a case of 17-year-old boy with abnormalities of the olfactory system, as was noted on magnetic resonance imaging (MRI). He had an atrophy of the frontal lobe, mental retardation, a micropenis and unilateral renal agenesis. Hormonal assay documented low levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone and thyroid-stimulating hormone (TSH). So, we report here on an unusual case of Kallmann's syndrome along with briefly reviewing the relevant medical literature.