ABSTRACT
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.
Subject(s)
Retinal Dystrophies , Retinitis Pigmentosa , Usher Syndromes , Humans , Mutation , Mexico/epidemiology , Retinal Dystrophies/epidemiology , Retinal Dystrophies/genetics , Retinitis Pigmentosa/genetics , Pedigree , ATP-Binding Cassette Transporters/geneticsSubject(s)
COVID-19 , Cataract , Ophthalmology , Cataract/therapy , Delivery of Health Care , Humans , SARS-CoV-2ABSTRACT
PURPOSE: To compare the effectiveness of three different topical nonsteroidal anti-inflammatory drugs (NSAIDs) in inhibiting surgically induced miosis during uncomplicated cataract phacoemulsification. METHODS: Prospective, randomized, double-masked comparative study of patients aged 40 years or older with grades II to III cataracts (Lens Opacities Classification System) and no other comorbidities. Participants were randomized into four groups: 0.1% nepafenac, 0.03% flurbiprofen, 0.4% ketorolac, or lubricant (control group). Medications were applied three times, starting 90 minutes before surgery at 30-minute intervals. Phacoemulsification was performed by the same surgeon using the stop-and-chop technique. Pupillary area and vertical and horizontal pupil diameters were measured at five surgical stages and analyzed with a computerized image system. Multiple comparison tests were performed to analyze intergroup differences. A P value of less than .05 was considered statistically significant. RESULTS: A total of 88 eyes were included in the study (22 eyes per group). Maximum pupillary area at the end of surgery was observed in the nepafenac group (62.72 ± 9.75 mm2) versus the ketorolac, flurbiprofen, and control groups (P = .003, P =.001, and P < .001, respectively). The percentage of pupillary area loss at the end of surgery was 7.50% with nepafenac, 9.84% with flurbiprofen, 10.09% with ketorolac, and 13.83% with control. A trend to larger pupillary area and diameters was found in the nepafenac, flurbiprofen, and ketorolac groups compared with the control group, with better performance in maintaining larger pupil diameters and area in the nepafenac group at all surgical stages. CONCLUSIONS: All NSAIDs were effective in maintaining intraoperative mydriasis during uncomplicated cataract phacoemulsification compared to the control group. [J Refract Surg. 2017;33(4):236-242.].
