Norrie disease
Norrie Disease
Norrie disease (pronounced: /ˈnɔːri/), is a rare genetic disorder that primarily affects the eyes and can lead to blindness. The disease is named after Gordon Norrie, a British ophthalmologist who first described the condition in 1927.
Etymology
The term "Norrie disease" is derived from the name of the British ophthalmologist Gordon Norrie who first described the condition. The disease is also known as Norrie-Warburg syndrome or atrophia bulborum hereditaria.
Symptoms
The primary symptom of Norrie disease is blindness or severe visual impairment at birth or early infancy. Other symptoms may include intellectual disability, psychosis, hearing loss, and growth retardation. Some individuals with Norrie disease may also have a characteristic facial appearance, with a flat nasal bridge and widely spaced eyes.
Causes
Norrie disease is caused by mutations in the NDP gene, which is located on the X chromosome. This gene provides instructions for making a protein that is needed for the development of the eyes and other parts of the body.
Diagnosis
Diagnosis of Norrie disease is based on the clinical symptoms, family history, and confirmed by genetic testing. The genetic test involves sequencing of the NDP gene to identify any mutations.
Treatment
There is currently no cure for Norrie disease. Treatment is supportive and focuses on managing the symptoms. This may include physical therapy, occupational therapy, and speech therapy for those with developmental delays.
Prognosis
The prognosis for individuals with Norrie disease varies. Some individuals may have a normal lifespan with supportive care, while others may have a shortened lifespan due to complications from the disease.
See also
References
External links
- Medical encyclopedia article on Norrie disease
- Wikipedia's article - Norrie disease
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