Conditions / Syndrome
Norrie disease
info · Syndrome
A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_
A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
Signs and symptoms
- Shallow anterior chamber
- Corneal opacity
- Retinal detachment
- Opacification of the corneal stroma
- Seizure
- Psychosis
- Retinal fold
- Hallucinations
- Cataract
- Sensorineural hearing impairment
Also known as: Episkopi blindness; Norrie-Warburg disease; atrophia bulborum hereditaria