National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Norrie disease

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My sister and I are carriers of Norrie disease. We feel like we have some of the symptoms of the disease. Is this possible?
In rare cases, females who are carriers of Norrie disease can have problems in the retina of the eye. These eye problems, including retinal detatchment and abnormalities of the retina's blood vessels, can be associated with vision loss. Additionally, some carrier females can have mild sensorineural hearing loss.

Symptoms in carrier females of Norrie disease are believed to be caused by a genetic event called non-random X-chromosome inactivation.
Last updated: 4/1/2014

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  1. KB Sims. NDP-Related Retinopathies. GeneReviews: July 23, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1331/. Accessed 4/1/2014.