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Norrie disease

How is it diagnosed?

The diagnosis is made clinically by an ophthalmologist and can be confirmed now by gene testing of the NDP gene. If a gene fault is identified in the affected boy then it is possible to test his mother for carrier status and to offer testing to other female family members.

View What are the causes? What are the causes?  |  How is it treated? View How is it treated?

Medical text written October 2005 by Contact a Family. Approved October 2005 by Professor D Trump, Professor of Human Molecular Genetics and Hon. Consultant in Clinical Genetics, University of Manchester, Manchester, UK.

 

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