### Patient Information This case series describes 13 affected individuals from 10 unrelated families recruited internationally through research and diagnostic programs focused on unsolved childhood- and adult-onset retinal diseases. The patients were aged between 18 and 49 years at symptom onset, with an approximately equal sex distribution (46% female). All patients presented with progressive visual impairment characterized primarily by night blindness and peripheral visual field constriction. Notably, 4 individuals also developed adult-onset sensorineural hearing loss. There was no prior molecular diagnosis despite extensive genetic workup, and no known family history of retinal degeneration was reported for some cases. ### Diagnosis Genomic analyses identified bi-allelic likely pathogenic variants in the PRKCZ gene in all 13 affected individuals. Of the six distinct…
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