Dr. SANTOSH MAHAPATRA

Dr.Gayatri Kanungo, Dr.Pramod Kumar Sharma

Abstract

ABCA4 mutation leads to severe photoreceptor degeneration. Optogenetics therapy offers the potential for vision restoration in these patients by photosensitizing higher order neurons. Multi-Characteristic Opsin (MCO) is an engineered opsin that is activated at ambient light thereby avoiding the need for an external amplifyier and associated phototoxicity. Four subjects with ABCA4 mutation having advanced RP were identified. Single intravitreal injection of AAV2-MCO (vMCO) was used to study safety and exploratory efficacy and found to be well tolerated with no serious adverse events. Ocular adverse events were limited to inflammation and mild IOP rise, which was controlled with topical medications. Furthermore, exploratory efficacy demonstrated improvement in visual function and functional vision in the subjects. This proof-of-concept study demonstrates promise in restoring vision for ABCA4 mutation patients with RP and has potential in other inherited retinal degenerations.

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