Definition:
Norrie Disease is a disorder that affects the eye often leading to blindness. Some patients suffer in hearing loss, while others may be mentally challenged.
Diagnosis:
Clinical findings combined with molecular genetic testing are used in diagnosing Norrie Disease. Clinical diagnoses of newborns until three months of age, reveal grayish-yellow fibrovascular masses behind the eye. Molecular genetic confirms diagnostic testing, for carrier females, prenatal diagnosis, and preimplantion genetic diagnosis.
Symptoms and Signs:
Patients with Norrie Disease may develop eye problems such as cataracts or have developmental delay or mental retardation, psychotic-like features, and other abnormalities. Most patients start to loss hearing in early adolescence.
Causes:
Norrie Disease is genetically inherited. It is caused by gene mutations, which affect most males while most females are genetic carriers.
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