RESUMO
BACKGROUND: Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country. METHODS: Patients with inherited retinal dystrophies were included. A complete history, full ophthalmological and medical genetics evaluations, and genetic analysis through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were undertaken. RESULTS: A total of 126 patients were included. Cases were solved in 74.6% of the study's population. Retinitis pigmentosa accounted for the most found inherited retinal disease. Ninety-nine causal variants were found, being USH2A and ABCA4 the most affected genes (26 and 15 cases, respectively). CONCLUSIONS: The present study documents the most prevalent causative genes in IRDs, as USH2A, in northeastern Mexico. This contrasts with previous reports of IRDs in other zones of the country. Further studies, targeting previously unstudied populations in Mexico are important to document the genetic background of inherited retinal dystrophies in the country.
Assuntos
Distrofias Retinianas , Retinose Pigmentar , Síndromes de Usher , Humanos , Mutação , México/epidemiologia , Distrofias Retinianas/epidemiologia , Distrofias Retinianas/genética , Retinose Pigmentar/genética , Linhagem , Transportadores de Cassetes de Ligação de ATP/genéticaRESUMO
The objective of this work was to assess the quality of the consumption of foods rich in antioxidants such as vitamin C, E and selenium, in a sample of 28 patients with diabetic retinopathy (DR) who attended outpatient consultation at the Institute of Vision, of the La Carlota Hospital, in February 2021. The research was observational, descriptive, cross-sectional, with an analytical component. Patients older than 20 years with DR were included, who agreed to participate in the food survey applied by hospital professionals. Sociodemographic and ophthalmological variables and food consumption were measured. Results: 60% of the cases were men, the mean age was 56 ± 13 years. Proliferative diabetic retinopathy (PDR) was the most frequent diagnosis. Regarding food consumption, the most frequently mentioned were eggs, onion, garlic, parsley, orange, banana, lemon, corn tortillas, chili peppers, avocado. It was almost zero intake of whole fiber, nuts and vegetable oils. The median consumption of vitamin C was 87.5 mg, vitamin E 13.9 mg, and selenium 36.7 mcg. Deficient consumption of these micronutrients was found in 63% of cases, especially in men. In this research, no statistically significant association was found between poor consumption of foods rich in antioxidants and PDR (X2 p= 0.2). Conclusion: There is a marked deficit in the consumption of foods with a high contribution of antioxidants in patients with RD, but this situation does not affect the severity of the disease.
El presente trabajo tuvo como objetivo valorar la calidad del consumo de alimentos ricos en antioxidantes como la vitamina C, E y selenio, en una muestra de 28 pacientes con retinopatía diabética (RD) que acudieron a consulta ambulatoria en el Instituto de la Visión, del Hospital La Carlota, en febrero del 2021. La investigación fue observacional, descriptiva, transversal, con componente analítico. Se incluyeron pacientes mayores de 20 años con RD, quienes aceptaron participar de la encuesta alimentaria aplicada por profesionales del hospital. Se midieron variables sociodemográficas, oftalmológicas y el consumo alimentario. Resultados: El 60% de los casos eran hombres, la edad media fue de 56 ± 13 años. La retinopatía diabética proliferativa (RDP) fue el diagnóstico más frecuente. En cuanto al consumo alimentario, los mencionados con mayor frecuencia fueron huevo, cebolla, ajo, perejil, naranja, plátano, limón, tortillas de maíz, chiles, aguacate. Fue casi nula ingesta de fibra integral, frutos secos y aceites vegetales. La mediana de consumo de vitamina C fue de 87,5 mg, de vitamina E 13,9 mg y de selenio 36,7 mcg. Se comprobó consumo deficiente de estos micronutrientes en el 63% de los casos, especialmente en los hombres. En esta investigación, no se encontró asociación estadísticamente significativa entre el consumo deficiente de alimentos ricos en antioxidantes y la RDP (X2 p=0,2). Conclusión: Existe un marcado déficit en el consumo de alimentos con alto aporte de antioxidantes en los pacientes con RD, pero esta situación no incide en la gravedad de la patología.
RESUMO
PURPOSE: To estimate the prevalence of blindness, visual impairment, diabetes mellitus, and diabetic retinopathy in patients aged 50 years and older in the State of Nuevo León, Mexico. METHODS: Ninety-one clusters of 60 people aged 50+ were selected randomly and a rapid assessment of avoidable blindness (RAAB) was conducted. Participants had their visual acuity and cause of visual impairment assessed, underwent a random glucose test and fundoscopy under mydriasis if they had diabetes. The diabetic retinopathy (DR) degree was classified according to the Scottish diabetic retinopathy grading scheme. RESULTS: From the sample 5,055 (92.6%) people were examined. The blindness prevalence was 1.7% (95% Confidence Interval: 1.3-2.1%). Cataract (32.6%), DR (29.1%) and glaucoma (16.3%) were the leading causes of blindness. The prevalence of severe, moderate, and early visual impairment was 1.0%, 5.1%, and 7.7%, respectively. Among respondents, 31% had diabetes and 8.1% of them was not diagnosed prior to the study. Of all participants with diabetes, 50% had glucose levels of 200 mg/dl or higher and 15.7% had sight-threatening diabetic retinopathy. CONCLUSIONS: Besides strengthening of cataract intervention activities, more ophthalmic services for diabetic retinopathy and glaucoma control are needed in Nuevo León to provide timely intervention to prevent blindness.