Usher Syndrome

USHER SYNDROME – An almost complete loss of both vision and hearing in children by the age of 10.

Ushers Syndrome is an inherited disease causing hearing loss from birth. Unfortunately the vision dystrophy called Retinitis Pigmentosa (RP) is also associated with this syndrome. This leads to the progressive loss of both vision and hearing in children affected by this syndrome.

Often the first symptom of RP is described as “night blindness”. This is where a child will  struggle to make it down the hallway without the lights turned on. Clumsiness is also noted, with children often bumping into walls and furniture.

Further progression leads to narrowing of the side vision resulting in “tunnel vision”.

There are there presently 3 types of Usher syndrome. Together, Types 1 and 2 account for approximately 90 to 95 percent of all cases of children.

Type 1 Ushers Syndrome:

Severe damage to the cochlea in the ear is noted from a very early age in the Type 1 Usher Syndrome. These children have severe deafness from birth.

Poor balance slows down normal milestones such as sitting up without support and not walking before the age of 18 months. Initially it would seem that their vision is normal but the obvious signs are there by the age of 10.

Signing is the common mode of communication in these children; however this is quickly hindered once the vision begins to deteriorate.

Type 2 Ushers Syndrome:

Hearing loss is more variable in the Type 2 Ushers Syndrome ranging from mild to severe.

The vision related symptoms don’t develop till later adolescence if not twenties.

Type 2 allows for enhanced communication opportunities in these people both with hearing aids and lip reading.

Diagnosis of suspected hearing loss should be investigated early as an Usher Syndrome child will exhibit this sensory loss first. One sign that may be displayed is “delayed development of speech”. Early diagnosis in children is important so that a child’s educational needs can be met.

Usher syndrome in adulthood can definitely isolate an individual from the world. The ability to make one’s self understood or to simply hear or see what other people are saying is very difficult.

In a crowded room a deaf person may use their vision to lip read, but how can a deaf blind individual communicate when both these senses fail him? It can be very isolating indeed.

Usher syndrome is incurable at present.