Catalog

Norrie disease

No MMS code

Link to WHO Definition

Norrie disease – http://id.who.int/icd/entity/676214590

Norrie's disease is an X-linked vitreoretinal dysplasia that only affects males presenting with bilateral leukocoria 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 microphthalmia, hypoplastic irides, synechiae, glaucoma, and cataract, and in 1/3 of cases, bilateral perceptive deafness. Norrie disease progresses to blindness.

Parents