Loss of REP1 impacts choroidal melanogenesis in choroideremia
Hajrah Sakar, Dhani Tracey‐White, Ahmed M. Hagag, Thomas Burgoyne, Lasse D. Jensen, Malia M. Edwards, Mariya Moosajee
This study shows that loss of REP1 in CHM animal models and patients causes choroidal melanogenesis defects, including reduced melanin and melanosomes, and suggests potential therapeutic strategies.
bioRxiv · Jul 20, 2023 · PreprintMolecular Biology