A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
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.
Inclusion criteria:

 Any Ashkenazi Jewish individual with combined hearing and visual loss that is or may be any
 type of Usher syndrome, or a family member of said individual.

 Exclusion criteria:

 Any individual who is not an Ashkenazi Jew or does not have combined hearing and visual
 loss or whose disease has been previously determined not to be Usher syndrome.