Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

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.

Consumption of foods rich in antioxidants in outpatients with diabetic retinopathy at Hospital La Carlota during 2021 / Consumo de alimentos ricos en antioxidantes en pacientes ambulatorios con retinopatía diabética del Hospital La Carlota durante el 2021

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.

Ziv-aflibercept versus bevacizumab administration prior to diabetic vitrectomy: a randomised and controlled trial.

PURPOSE: To compare the effectiveness of intravitreal ziv-aflibercept (IVZ) to intravitreal bevacizumab (IVB) administered preoperatively to patients undergoing pars plana vitrectomy (PPV) for severe manifestations of proliferative diabetic retinopathy (PDR). DESIGN: Randomised clinical trial (RCT). METHODS: Two hundred and six patients with PDR-related complications requiring PPV were randomised into one of two treatment groups: Group A received IVZ (1.25 mg/0.05 mL) 1-10 days before PPV, while Group B received IVB (1.25 mg/0.05 mL) 1-10 days before PPV. The primary outcome was best-corrected visual acuity (BCVA) at 6 months follow-up. Secondary outcome measures were perioperative tractional retinal detachment (TRD) rates, surgical times, intraoperative and postoperative complications and incidence of unplanned PPV during the 6 month study interval. RESULTS: One hundred and seventy three subjects underwent PPV and completed the 6-month follow-up interval. Group A subjects had better BCVA at 6 months (p=0.0035), shorter surgical times (p=0.0013) and were less likely to have a recurrence of vitreous haemorrhaging in the postoperative period (p=0.0101) when compared with subjects in Group B. There were no significant differences among the treatment groups with regards to baseline characteristics, perioperative TRD development, intraoperative complications and incidence of unplanned PPV during the 6 month study interval. CONCLUSIONS: This RCT demonstrated better final visual outcomes, shorter operating times and less vitreous haemorrhage recurrences in the postoperative period when subjects received IVZ compared to IVB prior to PPV for the treatment of PDR-related complications.

Rapid assessment of avoidable blindness: Prevalence of blindness, visual impairment and diabetes in nuevo leon, Mexico 2014.

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.

Bevacizumab before Diabetic Vitrectomy: A Clinical Trial Assessing 3 Dosing Amounts.

PURPOSE: To evaluate the optimal dosing of preoperative intravitreal bevacizumab (IVB) in patients undergoing pars plana vitrectomy (PPV) for manifestations of proliferative diabetic retinopathy (PDR). DESIGN: Randomized clinical trial. PARTICIPANTS: Two hundred six patients with severe manifestations of PDR underwent PPV at a single university-based hospital. METHODS: Patients were randomized into 1 of 3 treatment groups: group A received 0.625 mg IVB (0.025 ml) 1 to 10 days before PPV, group B received 1.25 mg IVB (0.05 ml) 1 to 10 days before PPV, and group C received 2.5 mg IVB (0.1 ml) 1 to 10 days before PPV. MAIN OUTCOME MEASURES: The primary outcome was best-corrected visual acuity (BCVA) at 6 months. Secondary outcome measures were rates of perioperative tractional retinal detachment (TRD) development, intraoperative and postoperative complications, and incidence of unplanned PPV at 6 months. RESULTS: One hundred sixty-seven patients underwent PPV and completed 6 months of follow-up. There were no significant differences between treatment groups regarding baseline characteristics, final BCVA, intraoperative complications, postoperative complications, or unplanned PPV rates. There were no patients in group A (0.0%), 3 patients in group B (7.0%), and 5 patients in group C (8.5%) who demonstrated perioperative TRD after IVB administration, but before PPV (P = 0.0283). This difference was significant between groups A and B (P = 0.0494) and between groups A and C (P = 0.0080). CONCLUSIONS: This randomized clinical trial demonstrated that patients receiving the 0.625-mg dose of IVB before PPV for the treatment of PDR-related manifestations showed similar visual acuity, but a lower incidence of perioperative TRD development compared with patients receiving the 1.25-mg and 2.5-mg doses. Clinicians should consider adopting the lowest effective dose, 0.625 mg, into clinical practice. The current study is limited by the lack of a control group receiving no IVB before PPV.