Does voice gender discrimination provide a measure of more than pitch-related perception in cochlear implant users?
VGD measured with selected stimulus sets might be useful for assessing not only pitch-related perception, but also spectral and temporal processing by individual CI users. In addition to improvements in spectral resolution and modulation detection, the improvement in higher modulation frequency discrimination might be particularly important for CI users in noisy environments.
We have identified four Pakistani families with a severe form of LCA that is associated with severe keratoconus in some affected members. The molecular etiology in all four families is a homozygous nonsense mutation, Trp278X, in the photoreceptor-pineal gene AIPL1. To our knowledge, this is one of the first phenotype-genotype correlations of AIPL1-associated LCA.