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Revista Cubana de Oftalmología

Print version ISSN 0864-2176On-line version ISSN 1561-3070

Abstract

DYCE GORDON, Beatriz et al. Genetical and clinical aspects of Usher syndrome. Rev Cubana Oftalmol [online]. 2000, vol.13, n.2. ISSN 0864-2176.

With the aim of describe some genetic and clinical features of Usher´s syndrome, we performed a cross and descriptive study in National Center of Remission of Pigmentosa Retinitis from March 1996 o June 1998, where 33 patients were diagnosed of Usher´s syndrome through revision of medical records, interviews for interrogation and physical examination, as well as to drawing up and interpretation of genealogical tree. Most patients (60,60 %) presenting with type II Usher´s syndrome. We found consanguinity in 29,62 % of cases and familial pathologic bacgrounds were observed in 12 families. Ophthalmologic and clinical manifestations had a youthful onset, and audiologies had a very early onset (congenital) in type I, and in infancy in type II. In conclusion, in present study was evident clinical and genetic heterogeneity of Usher´s syndrome as well as hereditary character with a autosomal recessive pattern of inheritance. It is necessary its early diagnosis to offer genetical advising to parents and to treat disabilities

Keywords : RETINITIS PIGMENTOSA; DEAFNESS [diagnosis]; DEAFNESS [prevention & control]; DEAFNESS [therapy].

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