Review
Open access
Jan 2026
Insights Into RP2‐Associated Retinopathy: From Molecular Basis to Clinical Translation
Pathogenic variants in RP2 cause X‐linked RP2‐associated retinopathy, a rare inherited retinal disorder typically characterized by childhood onset and progression to severe visual impairment within the first three decades of life. Despite its clinical severity, comprehensive clinical and genetic data on RP2‐associated...
N. Bögershausen, Patricia Döring, Maximilian J. Gerhardt et al.
· Human Mutation · 0 citations