Norrie disease is characterised by the presence of retrolental dysplastic and primitive retinal tissue, which can lead to retinal detachment and progressive sensorineural hearing loss. Other features may be present as well.

Norrie disease is a rare genetic condition that causes severe visual impairment or blindness from birth. Most affected individuals later suffer from progressive hearing loss, which is usually noticeable during teenage years.

Overview Norrie disease Additional information References Overview Gene (OMIM No.) NDP (#300658) Function of gene/protein Protein: Norrin Part of the...