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Usher syndrome type 2A

MONDO:0010169

Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.

Also known as: USH2A, USH2A Usher syndrome, Usher syndrome caused by mutation in USH2A, Usher syndrome type 2A, retinal disease in usher syndrome type IIA, modifier of, US2, USHER syndrome, type IIA, Usher syndrome, type 2A

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Usher syndrome (12) Autosomal recessive disease (4) Disease of genetic or genomic mechanism (2) Usher syndrome type 2 (1) Autosomal genetic disease (0) Disease by body system or component (0)
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  • Eye disease study aims to pave way for future treatments

    Knowledge-focused Ongoing

    This study follows 127 people with a genetic eye condition called USH2A-related retinal degeneration, which can cause vision loss and hearing problems. Researchers measure changes in vision, retinal sensitivity, and mobility over several years. The goal is to understand how the d…

    Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused

    Last updated Jun 27, 2026 09:01 UTC

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