Retinitis Pigmentosa Clinical Trial
Official title:
A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
Hearing loss and loss of vision can be very harmful to the well-being and life of people who
suffer from them. Usher syndrome is the name of a disease where people have both hearing
loss and visual loss. In fact more than half of people who are deaf and blind have Usher
syndrome. In this study we are trying to find the causes of all types of Usher syndrome and
to learn more about how the eyes and ears work. Usher syndrome is caused by changes in our
genes that lead to mistakes in the functioning of our eyes and ears.
We may conduct hearing tests called audiograms to test hearing and a vision test called an
electroretinogram (ERG) to test how well the retina (the part of your eye that senses light)
is working on participants in the study. From these tests we can tell what kind of Usher
syndrome a participant may have.
We will then get DNA from participants by drawing blood. The DNA will be studied, along with
DNA from members of the participant's family and other families, to try to find the gene
that is causing Usher syndrome in the participant.
Once the gene is found we will be able to study it to learn more about how the eyes and ears
work.
If a subject has already been diagnosed we may just need copies of their medical records and
blood can be drawn locally.
In order to increase the power of the study and the likelihood of detecting relevant genes
participants will be taken from the Ashkenazi Jewish population group only. This will make
it much easier to find the genes.
n/a
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