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In addition, the clinical diagnosis of the retinopathy-associated variant, originally described as benign concentric annular macular dystrophy, was also revised to RP with early macular involvement. Using morpholino-mediated ablation of and its paralog in medaka fish, we confirmed a phenotype consistent with that observed in the families, including a decreased length of rod and cone photoreceptor outer segments. This study discusses a previously unreported association between monoallelic or biallelic variants and RP. Notably, similar ob