Fig. 1.

Clinical features of Vici syndrome. Note hypopigmentation in relation to ethnic (a–d, of Turkish origin) and familial (e–f) background. Coarsening of facial features with full lips and macroglossia resembling (lysosomal) storage disorders is noted in some older children (g). There is evidence of retinal hypopigmentation and optic atrophy on fundoscopy (h). From Cullup et al. Nature Genetics 2013; 45 (1):83–87, reproduced with permission