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Revista Archivo Médico de Camagüey
versão On-line ISSN 1025-0255
Resumo
DYCE GORDON, Elisa; MAPOLON ARCENDOR, Yolanda e SANTANA ALVAREZ, Jorge. Medical, genetic, and psychosocial aspects of Usher´s syndrome. AMC [online]. 2011, vol.15, n.5, pp. 781-790. ISSN 1025-0255.
Background: Usher´s syndrome is a genetic disease that is characterized by congenital bilateral progressive neurosensory hypoacusis, loss of vision due to retinitis pigmentosa and occasionally also presents vestibular disorders. Objective: to describe the main medical, genetic, and psychosocial aspects present in patients with Usher´s syndrome. Method: a cross-sectional descriptive study was conducted in 14 patients with Usher´s syndrome diagnosis treated at the pigmentary retinosis Center in Camagüey, from 1991 to 2008. Results: fourteen patients came from different families and six of them had family pathological history. Found consanguinity among parents of persons affected by 35,72 % of families, cousins was the main degree of kinship. Usher´s syndrome type II was the most common form. The majority of patients were from urban areas; which carried the syndrome slightly aspired to achieve a higher level of schooling, as well as those from urban areas. Nine of them had jobs, some risky works. Four out of nine, did not work and only two were female. Conclusions: clinical manifestations of Usher´s syndrome cause a double constraint (visual and auditory), which are responsible for the psychological and social disorders that are associated to it. Affected persons need a special care to help improve the quality of their lives.
Palavras-chave : USHER SYNDROME [genetics]; DEAF-BLIND DISORDERS; HEARING LOSS, SENSORINEURAL; CROSS-SECTIONAL STUDIES.