Gene Therapy for Extreme Hyperopia

Hyperopia (farsightedness) is a common and significant cause of visual impairment and MFRP mutations can cause extreme inherited hyperopia (termed nanophthalmos). Exreme hyperopia leads to other significant visual comorbidities, such as angle closure glaucoma, cystic macular edema, and exudative retinal detachment. The Mfrp^rd6/Mfrp^rd6 mouse is used as a pre-clinical animal model of retinal degeneration, and we found it was also hyperopic. Our lab used AAV gene therapy to restore Mfrp function in these mice. The rescue was evaluated using non-invasive, human clinical testing, including fundus auto-fluorescence, optical coherence tomography, electroretinography, and ultrasound as well as through proteomic analysis of the mouse RPE.