Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. The disease is Monarch Disease Ontology identifier MONDO_0010988 (aplasia cutis-myopia syndrome). Also known as: Gershoni-Baruch-Leibo syndrome, aplasia cutis myopia.