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Revista Archivo Médico de Camagüey

versión On-line ISSN 1025-0255

Resumen

DYCE GORDON, Elisa; MAPOLON ARCENDOR, Yolanda; PALMA LOPEZ, Maritza  y  SANTANA ALVAREZ, Jorge. Clinical Characteristics of the Usher's syndrome. AMC [online]. 2000, vol.4, n.4. ISSN 1025-0255.

State the clinical and genetic characteristics of the Usher syndrome, a descriptive and transversal study was carried out at the Camagüey retinosis pigmentaria Center, since octuber 1991 until may 1998 with seven patients affected by Usher syndrome. By interviews and preparation of surveys, including the genealogical tree necessary data were collected. Esher syndrome type II was the most frequent. Hearing loss and ocular manifestations onset were variable. Nigth blindness and phoptofobia were to the more frequent of the ophptalmologic manifestations. Consaguinity within families and pathological antecedents were found in 28, 57% and 43% respectively. The disease is clinical and genetically heterogenous. It must he suspected in all patients with retinitis pigmentosa and hearing loss. The diagnosis may be done early.

Palabras clave : USHER SYNDROME; RETINITIS PIGMENTOSA; DEATINESS.

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