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Rare Diseases Blog

By Mary Kugler, R.N., About.com Guide to Rare Diseases since 2000

Norrie Disease

Sunday May 4, 2008
Leukocoria (white pupil) is a symptom of Norrie diseaseNorrie disease is an inherited disorder that leads to blindness at birth or soon after, hearing loss, and developmental delay. Mutations in the NDP gene on the X chromosome cause Norrie disease.

Photo © A.D.A.M.

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