Crumbs homolog 1 gene (CRB1; OMIM# 604210) mutation, inherited in an autosomal recessive pattern, is one of the common causes of retinal dystrophy, included type 8 Leber congenital amaurosis (LCA8; OMIM# 613835), early onset severe retinal dystrophy (EOSRD), type 12 retinitis pigmentosa (RP12; OMIM# 600105) and macular dystrophy (MD).1 The gene discussed is CRB1; the disease is Menkes disease.