Norrie disease
Norrie disease
Definition
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.
Also known as atrophia bulborum hereditaria, Episkopi blindness, Norrie disease, Norrie disease, X-linked recessive, Norrie-Warburg disease — per MONDO