Retinal disorders

Gene: PRKCZ

Green List (high evidence)

Bi-allelic PRKCZ variants were identified in 13 affected individuals from 10 unrelated families with autosomal recessive, adult-onset retinitis pigmentosa (onset 18–49 years), characterised by progressive night blindness, peripheral visual field constriction and eventual central vision loss. Six rare variants were identified, predominantly predicted loss-of-function variants, all affecting the long, retinal-enriched PRKCZ isoform. Functional studies demonstrated reduced PRKCZ expression, impaired ciliogenesis and altered mitochondrial organisation, while a missense variant disrupted PB1 domain-mediated protein interactions.
Sources: Literature

Created: 30 Oct 2026, 6:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinal dystrophy; retinitis pigmentosa

Publications

• PMID: 42955015

Mode of pathogenicity
Other