Definition

What is Norrie disease?

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Those suffering from Norrie disease also experience hearing problems, and their development is retarded or is very slow. They have some kind of behavioral abnormalities as well.

How common is Norrie disease?

Norrie disease is uncommon. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Norrie disease?

The most important characteristic of Norrie disease is blindness right after birth. The other symptoms of Norrie disease vary from individual to individual.

Some of the Symptoms of Norrie disease are:

  • Blindness- because of recurrent vitreous hemorrhages
  • Cataract– caused by the mass behind the eye lens to obstruct vision
  • Opacification of the cornea: – causes shrunken eyeball, retinal malformation and retinal folds
  • Detached retina
  • Diabetes
  • Delayed walking and sitting
  • Psychosis

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Norrie disease?

Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner.

The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the norrin protein seems to play an important role in the development of retinal cells in the eye. It is also involved in creating a blood supply to tissues of the retina and the inner ear, and the development of other body systems. Mutations in the NDP gene can prevent the norrin protein from working correctly, resulting in the signs and symptoms of Norrie disease.

Norrie disease is inherited in an X-linked recessive pattern and that’s the reason why mostly the boys are affected with this condition.

Risk factors

What increases my risk for Norrie disease?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Norrie disease diagnosed?

Norrie disease is suspected based on the detailed study of the patient history, through the clinical evaluation and identifying the characteristics of findings.

There are chances of family history that supports the X – linked inheritance. It can be confirmed with the help of molecular genetic testing where the doctor can come to know about the mutation in the defective gene present. Such information can be available by doing the testing at the respective clinical testing laboratories.

Based on certain symptoms it is diagnosed whether the child is having Norrie disease. The symptoms are as follows:

  • As soon as the child is born the eyeballs of the child shrinks
  • There can appear cloudiness in the eye lens
  • There is a shrinkage in the pupils
  • Iris of the eyes may shrink
  • Sometimes there is loss of hearing in the child
  • Delay in other developments such as sitting and walking.

How is Norrie disease treated?

It is found that there is no specific treatment that could treat Norrie disease as it is a genetic disorder. There is also no way to discontinue or stop or reverse the loss of sight and also hearing. The only medical treatments that can be given are for the other problems associated with Norrie disease like respiration or breathing difficulties and in some case digestion problem.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Norrie disease?

A child born with Norrie disease would need special attention such as special education because of sight and hearing impairments. Moreover, specialized attention is also needed as many children will have mental retardation.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 31, 2018 | Last Modified: January 31, 2018

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