TMEM67 and retinal degeneration: Similarly, in the NIH cohort, no retinal degeneration was observed in patients with TMEM67 defects, as well as in those carrying CPLANE1 and KIAA0586 variants (Vilboux, Doherty, et al., 2017), and we also reported these negative associations in our cohort (Iannicelli et al., 2010; Romani et al., 2015; Roosing et al., 2015).