What is Norrie Disease

Norrie Disease is a rare genetic disorder that primarily affects the eyes and can lead to blindness in males. It is named after the ophthalmologist, Gordon Norrie, who first described the condition in 1961. This disease is caused by mutations in the NDP gene, which is responsible for producing a protein essential for normal eye development.

Individuals with Norrie Disease often experience progressive vision loss, starting from infancy or early childhood. They may develop a condition called retinal detachment, where the light-sensitive tissue at the back of the eye separates from its underlying support layers. This detachment can lead to severe visual impairment or complete blindness.

In addition to eye-related symptoms, some individuals with Norrie Disease may also exhibit hearing loss or intellectual disabilities, although the severity and presence of these features can vary. Unfortunately, there is currently no cure for Norrie Disease, and treatment mainly focuses on managing the symptoms and providing support to affected individuals and their families.