Usher Syndrome - Information & Symptoms

Usher Syndrome - Condition which affects Hearing and Sight!

by Mary Guest, Head of Usher Syndrome Services at Sense.

Usher syndrome is an inherited condition that causes hearing loss and progressive loss of vision from Retinitis pigmentosa (RP). The hearing loss is deemed to be congenital, and varies from moderate to profound.

Usher syndrome is an inherited condition which results in hearing loss and a progressive loss of vision from Retinitis pigmentosa (RP). The hearing loss is thought to be congenital, and ranges from moderate to profound. RP can take place without hearing loss. The situation is named after a British ophthalmologist, C.H. Usher, who in a paper in 1914 illustrated numerous cases in which the link between congenital deafness and RP was stressed. However, as far back as 1860 workers such as von Graef and Liebreich in Berlin were sentient of the link between congenital deafness and RP, especially in consanguinous marriages.

This term describes not one disease but a group of hereditary diseases of the retina. The retina is the light sensitive tissue inside the eye in which the first stages of 'seeing' take place. With RP the retina slowly degenerates and loses its ability to transmit pictures to the brain. In advanced stages characteristic clumps of pigment appear on the retina and can be seen through an ophthalmoscope.

Symptoms

The first symptom to appear in RP is night blindness; this may also be coupled with difficulty in adapting to bright light or rapidly changing light conditions. Difficulty with dark adaptation can occur in childhood, and although it may be noticed it is seldom attributed to RP, but rather clumsiness, stupidity or even lack of carrots!