Norrie disease (Q67447): Difference between revisions

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Latest revision as of 15:16, 14 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_676214590
English	Norrie disease	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.