Norrie Disease
Norrie Disease Causes
Norrie Disease is genetically inherited. It is caused by gene mutations, which affect most males while most females are genetic carriers.
Norrie Disease 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.
Norrie Disease 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.
Norrie Disease 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.