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Usher syndrome (USH) is a genetically heterogeneous disease with autosomal recessive deafness and blindness. Gene therapy is under development for use in the most common genetic variant of USH1, USH1B, which is caused by mutations in the MYO7A gene. This study was undertaken to identify an imaging method for noninvasively monitoring the RPE component of the USH1B disease.

Retinal Pigment Epithelium Defects in Humans and Mice with Mutations inMYO7A: Imaging Melanosome-Specific Autofluorescence