Human<i>CRB1</i>-Associated Retinal Degeneration: Comparison with the<i>rd8 Crb1</i>-Mutant Mouse Model

Abstract

CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages. Rd8 mice also have a disorganized retina, but there is sufficient photoreceptor integrity to produce largely normal retinal function. Differences between human and mouse diseases will complicate proof-of-concept studies intended to advance treatment initiatives.