Usher Syndrome

The Usher syndrome is a combination of the eye disease retinitis pigmentosa and labyrinthine hearing loss. Apart from the symptoms typical of retinitis pigmentosa - night blindness and an increasingly limited field of vision ('tunnel vision') - affected patients have either congenital deafness (Usher type 1) or are hard of hearing (Usher type 2). Compared to the eye condition, the level of deafness does not progress.

In absolute terms, Usher syndrome is a rare illness - roughly 4 out of 100,000 people in the population are concerned. In Germany, there are approx. 4, 000 sufferers; world-wide it is estimated that between 17,000 and 25,000 persons are affected.

The Usher syndrome is an autosomal recessive disease; i.e., both parents of a child with Usher syndrome each have a defective Usher gene. The illness, however, only breaks out if both defective genes are passed on to the child. A carrier of one healthy and one defective gene can pass on the illness, however, is not affected him/herself.

All Usher syndrome patients also have a special form of cataract, i.e. turbidity of the lens.

More detailed information about the clinical picture can be found in a brochure from the University ENT Clinic Heidelberg with the title Usher Syndrome - A Brochure for Persons Concerned, Family Members and Interested Individuals under http://wwwitp.physik.tu-berlin.de/~krug/usher/dasush1.html

A good overview of the disease pattern, research and advisory options is also offered by the European Usher Internet site in German, English and French http://www.usher-europe.org/

Since 1993, the self-help association "Research against Blindness - Usher Syndrome Initiative e.V. (Registered Society)" also supports Usher research and tries to educate a broader public about the subject (Homepage: www.ushernet.org).