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.

Timely Surgery in Intermittent Exotropia.

INTRODUCTION: Surgical treatment of intermittent exotropia is indicated when periods of monocular deviation become longer or control over deviation deteriorates. However, there is no consensus on the ideal age to perform surgery in patients with intermittent exotropia. PURPOSE: To evaluate ocular alignment and sensory results at 12 months of follow-up, in patients who received surgical treatment for intermittent exotropia at ≤4 years or >4 years. METHODS: A retrospective, observational, analytical, and comparative cohort study was carried out, which included 97 patients treated surgically for X(T), divided into two groups, ≤4 years and >4 years. The motor and sensory results of the patients were evaluated on the first day, 1 month and 12 months of postoperative follow-up. RESULTS: In this study, no statistically significant differences were observed in ocular alignment and postoperative sensory results at 1 year of follow-up between both groups. CONCLUSION: Age is not a variable that influences surgical results in patients with intermittent exotropia. Instead of early or delayed surgery, we propose to use the term "timely surgery."

[Summarized real clinical cases use to learn clinical aptitude]. / Resúmenes clínicos problematizados para el aprendizaje de la clínica.

OBJECTIVE: to evaluate clinical skills indicators (CSI) with summarized real clinical cases (SRCC) by two generations of pregraduates interns. METHODS: with a descriptive survey design 430 SRCC were elaborated according to the CSI: risk factors, clinical diagnosis, laboratory and x-ray diagnosis, commission and omission iatrogenesis procedures, therapeutics, nosology and peer critical medical actions. An evaluation scale for the clinical cases included: a relationship with the clinical experience, and the CSI selected. The final evaluation was considered as adequate or inadequate and was performed independently by three medical social service students. RESULTS: except for family medicine, the SRCC were related to the clinical experience of the students. A 62 % of the total was considered as adequate. The CSI assessed were related to risk factors (18 %), clinical diagnosis (32 %), omission and commission iatrogenesis (9 %), laboratory and x-ray diagnosis resources (16 %), therapeutics (17 %), nosology (9 %) and a critical to peer medical actions (3 %). CONCLUSIONS: the SRCC patients studied from different points of view by the interns included the CSI. Therefore, this action is advisable for the improvement of the patients' clinical approach.