Resumo

SANTANA HERNANDEZ, Elayne Esther; LANTIGUA CRUZ, Paulina Araceli  e  RABILERO BOUZA, Magalis. Usher syndrome epidemiological behavior in Holguín, Cuba. ccm [online]. 2018, vol.22, n.2, pp. 199-208. ISSN 1560-4381.

Introduction: Usher syndrome is a genetic disease. Nowadays, is the second visual and hearing impairment in the world. Among population from Holguín, Cuba, prevails a high autosomal recessive inheritance pattern, characterized by moderate to profound bilateral sensorineural hearing loss, progressive retinitis pigmentosa, and dysfunction, in some cases. Objective: to determine epidemiological behavior of Usher syndrome in Holguin, Cuba. Method: a retrospective descriptive study was conducted. Universe was formed by 53 patients with a clinical diagnosis of Usher syndrome. Variables studied were: sex, age, affected families, consanguineous marriages and municipality. Results: 60.4% of cases were males, with 30.2% between 50 and 59 years old. The municipalities of Holguín and Mayarí were the most affected, with 23% and 21% of consanguineous marriages each. Conclusions: a greater number of affected people were males in their fifties, from Holguín municipality. Inbreeding social practice in these areas shows the increasing frequency of this disease in Holguín province. Clinical and molecular characterization studies will allow an early diagnosis, detection of possible heterozygous individuals and provide adequate genetic counseling to families at risk.

Palavras-chave : Usher syndrome; visual and hearing impairment; deafness and retinitis pigmentosa.

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