Abstract:
Usher syndrome is the most common cause of hereditary deaf blindness and has no
cure. Mutations in the USH2A gene, which encodes the protein Usherin, are responsible
for Usher syndrome type 2A (USH2A). Patients diagnosed with USH2A have congenital
hearing impairment that ranges from moderate to severe and experience
progressive vision loss beginning in the second decade of life. This progressive vision
loss, called retinitis pigmentosa (RP), is due to degeneration of the photoreceptor
cells in the retina, which initially causes night blindness and progresses to tunnel
vision. We are investigating retinal symptoms of USH2A using a zebrafish disease
model.