Four independent studies have reported eight different mutations in CEP78 in patients with CRDHL (Nikopoulos et al., 2016; Ascari et al., 2020; Namburi et al., 2016; Fu et al., 2017), whereas one study identified a homozygous CEP78-truncating variant in a family with non-syndromic retinitis pigmentosa (MIM# 268003; de Castro-Miró et al., 2016), another form of retinal degeneration. The gene discussed is CEP78; the disease is retinal degeneration.