Understanding Web Norrie Syndrome

WEB Norrie Syndrome: A Devastating Genetic Disorder Affecting Vision

Understanding WEB Norrie Syndrome

WEB Norrie syndrome is a rare X-linked genetic disorder that primarily affects the eyes. It is characterized by blindness or severe visual impairment. The condition is caused by mutations in the NDP gene, which is responsible for producing a protein called norrin. Norrin plays a crucial role in the development and maintenance of the blood vessels in the retina, the light-sensitive tissue at the back of the eye.

Symptoms and Diagnosis

The most prominent symptom of WEB Norrie syndrome is blindness or severe visual impairment. This can occur from birth or develop within the first few months of life. Other symptoms may include: * Abnormally small eyes (microphthalmia) * Cloudiness of the cornea * Cataracts * Glaucoma * White or grayish spots in the retina * Night blindness * Sensitivity to light * Nystagmus: involuntary rapid eye movements Diagnosis of WEB Norrie syndrome is typically made through a combination of genetic testing and an examination of the eyes by an ophthalmologist. Genetic testing can confirm the presence of mutations in the NDP gene.

Treatment and Prognosis

There is currently no cure for WEB Norrie syndrome, and treatment focuses on managing the symptoms and improving the patient's quality of life. Treatment options may include: * Low vision aids and assistive devices * Eye surgery to correct cataracts or glaucoma * Laser therapy to treat retinal detachment * Genetic counseling for families affected by the condition The prognosis for individuals with WEB Norrie syndrome can vary depending on the severity of the visual impairment. Some individuals may retain some degree of vision, while others may become completely blind.