Search results for "retinal degenerations: hereditary"

Neurophysiologic Testing in Infants With Usher Syndrome Type 1

2009

Purpose: Usher syndrome type 1 needs to be diagnosed at early age, when speech therapy and cochlear implantation can stimulate communication in a deaf child who will confront an additional visual handicap. Molecular diagnosis is not routinely available. Visual function tests are not easily performed in young children. Before the age of six years, progressive retinal degeneration does not always show fundoscopic changes and few data are available regarding neurophysiologic abnormalities. This study was designed to describe electroretinogram (ERG) and visual evoked potentials (VEP) in a series of fourteen children with Usher syndrome type I.Methods: Monocular ERG and binocular VEP were perfor…