Retina South Africa looking forward
"This genetic disease is sadly under-diagnosed in young children."
June 27 sees the start of International Deaf-Blind Awareness Week.
“One of the most common causes of deaf-blindness is Usher syndrome,” said Mrs Claudette Medefindt, deputy president of Retina South Africa, a patient action group for people with genetic retinal degenerative conditions.
She said 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 loss of vision.
She highlighted that this genetic disease is sadly under-diagnosed in young children.
Usher Syndrome occurs in three different forms, with type 1 being deafness. There are, however, clinical trials under way to replace a defective gene, the MYO7A gene, with a working copy of the gene in patients that are affected by Usher syndrome type 1b.
Usher type 2 and 3 patients are also encouraged to contact Retina South Africa, which will facilitate gene testing to identify the precise gene causing the Usher syndrome deaf-blindness.
Mrs Medefindt urged possible patients to get tested, by saying, “Of the estimated 8 000 people in South Africa affected by Usher syndrome, a mere handful are registered with our foundation. Thirteen different gene mutations have already been associated with the three types of Usher syndrome and a genetic diagnosis is the first step towards future treatment.”
