Preferred Label : Norrie disease;
ICD-11 definition : Norrie's disease is an X-linked vitreoretinal dysplasia that only affects males presenting
with bilateral leucocoria in the first weeks of life as a result of a whitish or yellowish
mass of immature retina behind the lens, and is associated with microphtalmia, hypoplasic
irides, synechiae, glaucoma, and cataract, and in 1/3 of cases, bilateral perceptive
deafness. Norrie disease progresses to blindness.;
ICD-11 synonym : Norrie-Warburg disease; Atrophia bulborum hereditaria; Episkopi blindness;
Origin ID : 676214590;
Automatic exact mappings (from CISMeF team)
Norrie's disease is an X-linked vitreoretinal dysplasia that only affects males presenting
with bilateral leucocoria in the first weeks of life as a result of a whitish or yellowish
mass of immature retina behind the lens, and is associated with microphtalmia, hypoplasic
irides, synechiae, glaucoma, and cataract, and in 1/3 of cases, bilateral perceptive
deafness. Norrie disease progresses to blindness.
