Alessandra M. Larimer-Picciani

This study evaluates the safety and efficacy of AAV-mediated TYR gene augmentation in nonhuman primates for OCA1 treatment, showing localized hypermelanosis and RPE transduction without severe adverse effects.

This study demonstrates that systemic delivery of an RPE-directed AAV-Tyr vector restores ocular pigmentation and reduces photophobia in an OCA1 mouse model.

The paper shows that Mitf-family transcription factors are required in cranial neural crest cells to promote choroid fissure closure and that their absence causes colobomas.