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- Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.
- Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
- Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.
- PRCD is essential for high-fidelity photoreceptor disc formation.