Santana HEE, Lantigua CPA, Rosado Ruíz-Apodaca I, Tamayo CVJ

Language: Spanish
References: 13
Page: 23-28
PDF size: 466.16 Kb.

ABSTRACT

Usher syndrome is the leading cause of associated visual and hearing impairment. The disease has an autosomal recessive inheritance pattern, with significant clinical and genetic heterogeneity. Usher syndrome is clinically divided into three main clinical subtypes 1, 2 and 3, while a fourth group is reserved for atypical variants. This clinical classification is based on hearing loss, age onset of retinitis pigmentosa and the presence or not of vestibular dysfunction. The aim of this paper is to describe the clinical and epidemiological characteristics of patients with Usher syndrome in the Holguin province. A descriptive epidemiological study was performed. The sample consisted of 53 patients with Usher syndrome, medical histories were reviewed and physical examination under informed consent was carried out. Most patients are in the 40 to 59 age group, and the masculine sex predominated. Early onset of retinitis pigmentosa occurred in 33(62,26%) patients. Hearing loss was congenital in the 67,92% of patients and caloric tests confirmed Usher type 2 in 38 patients (71,55%). Most patients are concentrated in four municipalities, which could be explained by the consanguinity that characterizes this region.

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