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The USH2A gene is involved in 3 types of pathologies :

  • Isolated Retinitis Pigmentosa

  • Usher syndrome type 2 (Retinitis pigmentosa associated with partial deafness)

  • Isolated deafness

Retinitis Pigmentosa

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.

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Usher Syndrome type 2

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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 :

usher syndrome type 2 ush2A retinitis pigmentosa retinite pigmentaire

Representation of progressive loss of vision

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