A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. The disease is Norrie disease (Monarch Disease Ontology entry MONDO_0010691). Also known as: Episkopi blindness, Norrie disease, X-linked recessive, Norrie-Warburg disease, atrophia bulborum hereditaria.