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Author

Sterre W. M. Mulder

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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. · 1 citation

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