Norrie Disease: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable. More detailed information about the symptoms, causes, and treatments of Norrie Disease is available below.
See full list of 15 symptoms of Norrie Disease
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Blindness often accompanied by mental deficiency, hearing impairment, and other disorders. The original report describes the syndrome in 7 boys in a Danish family but later cases were reported in several other geographic areas, including Episkopi in Cyprus (hence the synonym Episkopi blindness). - (Source - Diseases Database)
Norrie Disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Norrie Disease, or a subtype of Norrie Disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Norrie Disease as a "rare disease".
Source - Orphanet
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