Since then, there have been additional patients described with FEVR, both with and without microcephaly and intellectual disability, who were found to have germline variants in CTNNB1 (Coussa et al., 2020; Li et al., 2017; Panagiotou et al., 2017; Sun et al., 2019; Tipsuriyaporn et al., 2020; Wang et al., 2019), suggesting that vitreoretinopathy may truly be an important if not common feature in NEDSDV that could merit closer ophthalmologic surveillance in asymptomatic patients. The gene discussed is CTNNB1; the disease is vitreoretinal degeneration.