RESUMO
INTRODUCTION: Objective: To compare the diagnosis of NB through the use of the standardized interview of the World Health Organization/Pan American Health Organization (WHO/PAHO) with electroretinography, and also to evaluate the association of these diagnoses with serum concentrations of retinol in class III obesity individuals. Methods: Adult patients of both genders, in the 20-60 age group, with BMI ≥ 40 kg/m² were studied. NB was diagnosed through electroretinography and the standardized interview validated by the WHO/PAHO. Serum level of retinol was quantified by the HPLC-UV method, and VAD was diagnosed when levels were <1.05 µmol /L, and severity was also evaluated. Statistical analysis was carried out through the Statistical Package for the Social Sciences, version 21.0 (p < 0.05). Results: Mean BMI was 44.9 ï± 11.8 kg/m², and a negative correlation was found in serum levels of retinol (p= 0.01). The prevalence of VAD, according to the serum concentrations of retinol, was 14%, and of this percentage 23.3% had NB according to the standardized interview, and 22.0% according to electroretinography. NB diagnosed by both methods showed an association with VAD according to the serum concentrations of retinol. Of these individuals with NB, according to the standardized interview, 6.9% showed severe VAD, 10.3% moderate VAD and 82.8% marginal VAD. Conclusion: The standardized interview for the diagnosis of NB can be a good strategy to evaluate the nutritional status of vitamin A, and it is a simple, non-invasive and low-cost method.
INTRODUCCIÓN: Objetivo: Comparar el diagnóstico de NB mediante el uso de la entrevista estandarizada de la Organización Mundial de la Salud/Organización Panamericana de la Salud (OMS/OPS) con electrorretinografía, y también evaluar la asociación de estos diagnósticos con las concentraciones séricas de retinol en la clase III personas obesas. Métodos: se estudiaron pacientes adultos de ambos sexos, en el grupo de 20 a 60 años de edad, con un IMC ≥ 40 kg/m². La NB se diagnosticó mediante electrorretinografía y la entrevista estandarizada validada por la OMS/OPS. El nivel sérico de retinol se cuantificó mediante el método HPLC-UV, y el DVA se diagnosticó cuando los niveles eran <1.05 µmol / L, y también se evaluó la gravedad. El análisis estadístico se realizó a través del Paquete Estadístico para las Ciencias Sociales, versión 21.0 (p <0.05). Resultados: IMC promedio fue de 44.9 ± 11.8 kg / m², y se encontró una correlación negativa en los niveles séricos de retinol (p = 0.01). La prevalencia de DVA, según las concentraciones séricas de retinol, fue del 14%, y de este porcentaje, el 23,3% tenía NB de acuerdo con la entrevista estandarizada y el 22,0% según la electrorretinografía. La NB diagnosticada por ambos métodos mostró una asociación con VAD según las concentraciones séricas de retinol. De estos individuos con NB, según la entrevista estandarizada, el 6,9% mostró VAD grave, el 10,3% de VAD moderado y el 82,8% de VAD marginal. Conclusión: la entrevista estandarizada para el diagnóstico de NB puede ser una buena estrategia para evaluar el estado nutricional de la vitamina A, y es un método simple, no invasivo y de bajo costo.
Assuntos
Eletrorretinografia , Entrevistas como Assunto , Cegueira Noturna/diagnóstico , Adulto , Índice de Massa Corporal , Brasil/epidemiologia , Estudos Transversais , Eletrorretinografia/economia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cegueira Noturna/sangue , Cegueira Noturna/complicações , Cegueira Noturna/diagnóstico por imagem , Obesidade/sangue , Obesidade/complicações , Vitamina A/sangue , Deficiência de Vitamina A/sangue , Deficiência de Vitamina A/complicações , Adulto JovemAssuntos
Oftalmopatias Hereditárias/diagnóstico , Cegueira Noturna/diagnóstico , Fenômenos Fisiológicos Oculares , Células Fotorreceptoras Retinianas Bastonetes/patologia , Adaptação à Escuridão , Eletrorretinografia , Oftalmopatias Hereditárias/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Cegueira Noturna/fisiopatologia , Células Fotorreceptoras Retinianas Cones/fisiologia , Acuidade VisualRESUMO
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. Methods: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field electroretinography (ERG). In addition, imaging studies, such as optical coherence tomography (OCT), short-wave autofluorescence imaging, and quantitative analyses of hypofluorescence, were performed in each patient. Results: Best-corrected visual acuities ranged from 20/200 to 4/200. The median age of the patients at diagnosis was 23.3 years. The majority of the patients had photophobia and nyctalopia, and were classified as Fishman stage 4 (widespread choriocapillaris atrophy, resorption of flecks, and greatly reduced ERG amplitudes). An atypical retinal pigmentation pattern was observed in the patients, and the majority showed cone-rod dystrophy on full-field ERG. In vivo retinal microstructure assessment with OCT demonstrated central retinal thinning, variable loss of photoreceptors, and three different patterns of structural retinal degeneration. Two dissimilar patterns of abnormal autofluorescence were observed. No apparent age-related differences in the pattern of retinal degeneration were observed. Conclusions: The results indicate that this particular mutation in ABCA4 is associated with a severe retinal phenotype and thus, could be classified as null. Careful phenotyping of patients carrying specific mutations in ABCA4 is essential to enhance our understanding of disease expression linked to particular mutations and the resulting genotype-phenotype correlations.
Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Distrofias de Cones e Bastonetes/genética , Degeneração Macular/congênito , Mutação , Cegueira Noturna/genética , Fotofobia/genética , Transportadores de Cassetes de Ligação de ATP/deficiência , Adolescente , Adulto , Criança , Estudos de Coortes , Distrofias de Cones e Bastonetes/diagnóstico , Distrofias de Cones e Bastonetes/patologia , Eletrorretinografia , Feminino , Expressão Gênica , Estudos de Associação Genética , Heterozigoto , Homozigoto , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/genética , Degeneração Macular/patologia , Masculino , Cegueira Noturna/diagnóstico , Cegueira Noturna/patologia , Fotofobia/diagnóstico , Fotofobia/patologia , Retina/metabolismo , Retina/patologia , Doença de Stargardt , Tomografia de Coerência ÓpticaRESUMO
Descrever as alterações eletrofuncionais em um caso raríssimo da Doença de Oguchi. Paciente do sexo feminino, italiana de 17 anos de idade se queixava de cegueira noturna. A resposta escotópica de bastonetes, do ERG era não registrável. A resposta escotópica ao estímulo branco forte demonstrava uma diminuição de amplitude da onda B. As respostas ao flicker de 30Hz e ao EOG eram dentro dos limites da normalidade. Era presente o fenômeno de Mizuo-Nakamura. Os exames eletrofuncionais são muito importantes no diagnóstico de certeza da doença de Oguchi. É nítida, no presente caso, a discordância entre EOG e ERG. Considerando a função dos bastonetes, as respostas normais do EOG contrastam com a ausência de respostas dos bastonetes em condições escotópicas no ERG. Mais estudos são necessários para entender o complexo mecanismo eletrofuncional dessa doença e melhor definir a origem dos componentes sensíveis à luz do EOG...
To describe the electrophysiological alterations in a very rare case of Oguchi's disease. A 17-year-old italian girl complaining of night blindness underwent complete ophthalmological exams, including electrophysiological tests. Rod responses were nondetectable in full-field electroretinogram (ERG). The photopic ERG funtions, including the 30 Hz flicker ERG response was normal, while the scotopic b-wave was diminished in amplitude. The electrooculography (EOG) ratios within the normal range were 208% in the right eye and 222% in the left eye. The Mizuo-Nakamura phenomenon was present. The electrophysiological tests are important tools in Oguchi's disease diagnosis. In the present case, it's clear the non correspondance between EOG and ERG. Considering the rod function, the normal EOG ratio contrast with non-detectable rod ERG responses. More studies are necessary to understand the compless electrofuntional mecanism of the disease helping to understand the origin of the light-sensitive component of the EOG...