International Deaf Blind Awareness Week
Usher type 2 and 3 patients are also encouraged to contact Retina South Africa who will facilitate gene testing to identify the precise gene causing the Usher Syndrome deaf-blindness.
MBOMBELA – From the 27th of June commences International Deaf Blind Awareness Week.
Usher Syndrome is one of the most common causes of Deaf- blindness and this genetic disease is sadly under-diagnosed in young children who are born with severe or profound loss of hearing are generally not checked for retinal visual loss and inadequate preparation is made to allow for later later loss of vision.
Usher Syndrome occurs in three distinct forms with type 1 being the most profound deafness.
The good news is that clinical trials are under way to replace a defective gene in patients affected by Usher Syndrome type 1 B.
Retina South Africa, the patient action group for people with genetic retinal degenerative conditions, has partnered with the University of Cape Town to identify usher patients who may benefit from this new era of future treatments.
Usher type 2 and 3 patients are also encouraged to contact Retina South Africa who will facilitate gene testing to identify the precise gene causing the Usher Syndrome deaf-blindness.
International collaboration coupled with more funding support will ensure that these and other promising treatments are brought to South Africa. Claudette Medefindt, Head of Science for Retina South Africa says
“Of the estimated 8000 people in South Africa affected by Usher Syndrome, a mere handful is registered with our Foundation. 13 Different gene mutations have already been associated with the 3 types of the syndrome and a genetic diagnosis is the first step towards future treatment,”.
