So how exactly does this discomfort called Norrie come about? Which sex affects more? Do they have different symptoms?
Let’s give the answers to all these questions.
The Norrie discomfort, which causes people to be blind and deaf, is involved in the scientific world for the first time in 1927 and Denmark.
This rare disease is a hereditary genetic disorder. In other words, Norrie is more than 100 and different types of mutations in a gende called “Norrin Sistein Node Growth Factor (NDP).
This gene encodes a protein called Norrin, which is thought to help to preserve the neurons required for the development of tissues and cells. In addition, the presence of this protein causes the formation of blood vessels in the inner ear.
Norrie discomfort, which has been reported to 500 events around the world so far, affects men to a great extent than women. When a random lady gets this disease, her symptoms are much lighter.
In addition, the NDP gene, which causes this discomfort, is always in the X chromosome.
In addition, a person inherits two copies of the mutated NDP gene, one of each parent to develop this disease. However, since men only take an X chromosome, if this chromosome has miscarriage again, they definitely have this discomfort.
Let’s come to the symptoms of this discomfort.
The most common in the midst of symptoms is visual loss. Because the mutations in the NDP gene cause the retina not to work properly. This vision loss in the eyes is largely seen during birth or a few months after birth.
Because of this discomfort, in addition to vision loss, the eye of the eye, known as bleeding or cataract, blurred or enlarged or white pupils may occur.
Hearing loss is mostly seen in 30 %of patients. This loss emerges with many years of age. In addition, some developmental delays can be seen in the motor skills of these individuals for walking and sitting.
Unfortunately, there is no cure to turn back the hearing and loss of vision caused by Norrie.
But scientists continue to work in order to develop new gene therapies to treat this genetic disorder. So they hope to replace the defective NDP gene with a functional copy.
We hope that scientists will succeed at this point and the losses caused by Norrie will be minimized.
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