Publications & presentations

Summary

Mucolipidosis IV is a rare inherited disorder that causes neurological impairment and progressive vision loss. This study tested a gene therapy designed to carry a functional copy of the affected gene across the blood-brain barrier in mice that were already showing symptoms. The treatment improved neurological function, reduced brain pathology, and prevented paralysis. Although the therapy reached the retina, it did not restore retinal thickness.

My contribution

I performed in vivo spectral-domain optical coherence tomography imaging of treated and control mice, segmented retinal layers, and analyzed retinal-thickness data to evaluate the therapy’s effects on retinal structure.