To develop successful treatments, scientists must understand disease etiology, the cause or origin of a disease, and its corresponding biomarkers, which are biological molecules or signatures that allow a disease to be detected and monitored.
MYO7A mutations are most commonly associated with Usher syndrome type 1B. In Spain, scientists conducted a 40+ month longitudinal study, imaging the retinas of 26 MYO7A pediatric patients to determine the first signs of MYO7A-induced deterioration.
Using advanced retinal imaging technology called swept-source optical coherence tomography (SS-OCT), they detected initial changes in the outer segments of the photoreceptor cells and the interdigitation zone (IZ), which refers to the outermost segment of the cone cells.
What this means for Usher syndrome: These insights help scientists better understand the cellular changes that occur with MYO7A-associated retinal dystrophy. They may also become important biomarkers for monitoring USH1B development, progression, and potential future treatments.
