Open access
Oct 2026
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.
Importance Inherited retinal diseases are genetically heterogeneous disorders, with retinitis pigmentosa (RP) representing the most common form; although more than 90 genes have been implicated, many RP cases remain molecularly unsolved. Objectives To describe an adult-onset RP phenotype associated with loss-of-funct...
Viviana Cordeddu, Riccardo Sangermano, S. Mulder et al.
· JAMA ophthalmology · 1 citation