versão ISSN 1029-3019
FREYRE LUQUE, Rásife et al. Type II Usher syndrome: ophthalmological, auditory, and genetic characterization of a consanguineous family. MEDISAN [online]. 2011, vol.15, n.9, pp. 1-7. ISSN 1029-3019.
A consanguineous family of 25 members, 3 of whom suffered from type II Usher syndrome was characterized through the auditory, ophthalmologic, and genetic study in the Retinitis Pigmentosa Center from Santiago de Cuba. The patients (2 males and a female) had in common: occurrence of the illness during youth, bad night vision, reduced visual fields, neurosensorial hypoakusia, and normal results in the vestibular tests; also, in molecular genetics, electrophoresis in polyacrilamide gel revealed the presence of the D1S237 marker, closely linked to the gene USH2 in chromosome 1. That characterization will allow to apply the genic therapy and both implants, mother cells and cochlear, as it corresponds.
Palavras-chave : family; Usher syndrome; hypoakusia; visual field; genetics; retinitis pigmentosa.