Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 () gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely influenced by the occurrence of founder mutations. Analysis of large groups of patients with OPMD from different ethnic origins will help to estimate the relative contribution of each expanded allele to the disease. The purpose of this study was to characterize the type of expanded alleles in a large cohort of OPMD individuals from Mexico. Molecular analysis procedures included genomic DNA extraction from blood leukocytes in each patient followed by PCR amplification of exon 1, and direct nucleotide sequencing of PCR products. A total of 102 patients with OPMD were included in the study. Expanded gene alleles were demonstrated in all patients: 65% (66 out of 102) had a (GCN)15 expansion while the remaining 35% (36 out of 102) exhibited a (GCN)13 expansion. This is one of the largest series of molecularly confirmed patients with OPMD in a non-Caucasian population. Ethnic-specific differences in the prevalence of specific expansions must be considered for genetic screening of patients with OPMD.

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Purpose We describe the ocular and periocular clinical features in patients with a facial palsy diagnosis of any etiology and to report the demographics, relevant medical history and treatment modalities in these patients. Patients and Methods Retrospective and descriptive observational study. A total of 60 patients with a facial palsy diagnosis in the last 5 years were recruited from an ophthalmological clinic in northeastern Mexico. Demographic data, such as age, sex, disease evolution and etiology, visual acuity, ocular symptoms and ocular and periocular clinical features were obtained. Personal history of previous ophthalmologic surgery, as well as ocular and systemic diseases, were also recorded. Finally, a comparative analysis was done to determine association between signs, symptoms and treatment modalities. Results A prevalence of 0.14% was reported, 56.7% of patients were female, and mean age of presentation was 55.63±17.2 years. 76.7% of facial palsy was idiopathic in origin, followed by vascular disease in 8.30% and iatrogenic in 6.70%. 40% of patients had a history of arterial hypertension, 36.3% were diabetic, and 6.70% had cerebrovascular disease. Conclusion Early diagnosis of facial palsy is crucial in establishing an effective treatment plan and avoiding complications. The impact of this disease in patients’ quality of life cannot be overlooked, and steps should be taken to address the different impairments that this ailment entails.

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