Article
A novel mutation in the Norrie disease gene.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2000
Ott S, Patel R J, Appukuttan B, Wang X, Stout J T
Abstract excerpt
Norrie disease is an X-linked recessive disorder characterized by congenital blindness and in some cases mental retardation and deafness.(1) The variability of signs among patients often complicates diagnosis. Signs such as an ocular pseudoglioma, progressive deafness, and mental disturbance are considered classic features.(2) Only one third of patients with Norrie disease have sensorineural deafness, and...
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