USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

USH2A is the most common gene associated with autosomal-recessive retinitis pigmentosa (RP) and Usher syndrome (USH). However, the gene is very large and there are many variants that can alter the clinical phenotype, leading to either RP or USH, thus making diagnosis challenging.

A group of European researchers in France, Germany, and the Netherlands, successfully developed three human disease-specific models for non-syndromic RP and Usher syndrome using retinal organoids. They can now identify and validate specific phenotypes of multiple RP and USH individuals using these three distinct organoid models.

What this means for Usher syndrome: This ability to identify RP and USH phenotypes from USH2A variants opens new doors for researchers to use these organoid models to study other USH2A variants in more detail to better understand the disease mechanism as well as therapeutic potential.

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