LCA5 and Leber congenital amaurosis: 2011; Mackay et al. 2013; Wang et al. 2015) in the Human Gene Mutation Database (HGMD) (Stenson et al. 2014). The siblings were diagnosed with fundus albipunctatus and cone‐rod dystrophy, with the latter associated with light perception (LP) since birth, Franceschetti's oculodigital sign and keratoconus (Table S4). Mutations in LCA5, generally associated with LCA, have recently been reported to cause cone dystrophy (Chen et al. 2016).