RP1L1 and Retinal dystrophy: Here, we identified a HKO (Individual_11), carrying the NM_178857.5:c.326_327insT variant, associated with syndromic retinal dystrophy in a previously described patient carrying another in cis RP1L1 nonsense variant (NM_178857.5:c.326_327insA) together with a nonsense variant in C2orf71, thus suggesting a digenic effect [39].