Norrie disease - MedPix® Medical Image Database and Teaching Files

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Disease Topic 69
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Contributor: James George Smirniotopoulos, M.D. - Uniformed Services University

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Norrie disease
Factoid 69 - Created: 1988-01-01 00:00:00-05 - Modified: 2000-02-26 19:08:12-05

Progressive oculo-acoustico-cerebral degeneration
X-linked recessive (disease occurs only in male children of unaffected female carriers)
Retinal malformation, deafness, retardation
partial/complete retinal detachment, vitreoretinal bleed (maybe neonatal), retrolental mass, cataract, glaucoma, ON atrophy, phthisis bulbi.
absence of retinal ganglion cells.
Some have suggested that this is similar to Coats' disease.

Location: Eye and Orbit (exclude Ophthalmology)	Sublocation: none selected	Category: Congenital, genetic
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Prepared by: James George Smirniotopoulos, M.D.
Affiliation: Uniformed Services University - || -
Approved by: Disease Factoid Approved

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