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USH2A

Disease Category: autosomal recessive

Patient Population:

Active Clinical Trials: 3 Recruiting

Treatment Options: Cochlear Implants (hearing)

Strategies to Preserve Eye Health: lutein

Institution(s) Conducting Research:

ProQR, Retina Foundation Southwest, Univ Wisconsin, Moorfields Eye Hospital London

A FACE OF RP

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Stephanie

Louisiana, U.S.

BRIEF DESCRIPTION

USH2A retinitis pigmentosa is a genetic disorder that causes vision loss due to mutations in the USH2A gene. The USH2A gene encodes usherin, a protein in the retina and inner ear. Mutations in the USH2A gene cause the breakdown of photoreceptors, the light-sensing cells in the retina. This leads to progressive vision loss. Early symptoms include night blindness and loss of side vision, also known as tunnel vision. Symptoms usually develop between the ages of 10 and 30, but can start in childhood. USH2A retinitis pigmentosa can be non-syndromic or syndromic, known as Usher syndrome type 2. Non-syndromic RP is not associated with other signs and symptoms. A medical professional can diagnose retinitis pigmentosa with lab tests. Retinal function can be assessed with an electroretinogram (ERG), and optical coherence tomography (OCT) can assess structural alterations. At this time, there's no cure for retinitis pigmentosa, but medications can help treat complications. 

IN THE NEWS

Faces of USH2A

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Gary

United Kingdom

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Rebecca

United States

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Stephanie

United States

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Bethany

Australia

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