Although PRPF8 genetic variants are primarily recognized for their association with ocular diseases including RP, our report proves that, akin to a recent study by O'Grady et al. (2022) involving 14 patients with NDD and heterozygous genetic variants in this gene, that homozygous missense variants may also be associated with NDDs and syndromic features. The gene discussed is PRPF8; the disease is retinitis pigmentosa 1.