The USH2A gene is involved in 3 types of pathologies :
Isolated Retinitis Pigmentosa
Usher syndrome type 2 (Retinitis pigmentosa associated with partial deafness)
Retinitis pigmentosa (RP) is a genetic degenerative eye disease that affect the retina and make cells break down slowly over time, causing progressive and gradual loss of vision usually progressing to blindness.
The prevalence is 1/4.000 people affecting both sexes and appearing most of the time between the ages of 10 and 30.
Usher Syndrome type 2
Usher syndrome combines deafness and a progressive visual field degradation.
Deafness, often partial, appears from birth while visual impairment, called retinitis pigmentosa, generally appears around adolescence.
The prevalence is here 1/30.000 people.
There are 3 types of syndrome which we detail below :