A novel CRISPR/Cas9-based workflow in Xenopus tropicalis to test the pathogenicity of human missense variants implicated in inherited blindness Ghent University
Inherited retinal diseases (IRD) are a major cause of visual impairment or even legal blindness.
With a prevalence of 1/3,000 in the general population, IRD form an immense impediment for
many people worldwide. The search for DNA variants responsible for IRD has been a tremendous
success over the past 30 years. However, our ability to interpret the functional and clinical
significance of individual variants, especially ...