The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Michaelides M., Gaillard M.C., Escher P., Tiab L., Bedell M., Borruat F.X., Barthelmes D., Carmona R., Zhang K., White E. et al., 2010. Investigative Ophthalmology and Visual Science, 51 (9) pp. 4771-4780. Peer-reviewed.
ici le détail