Norrie disease

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.

Last updated on 05-01-20

Might female carriers of Norrie disease have symptoms of the disorder?

In rare cases, females who are carriers of Norrie disease can have problems in the retina of the eye. These eye problems, including retinal detatchment and abnormalities of the retina's blood vessels, can be associated with vision loss. Additionally, some carrier females can have mild sensorineural hearing loss.

Symptoms in carrier females of Norrie disease are believed to be caused by a genetic event called non-random X-chromosome inactivation.

Last updated on 05-01-20

How might Norrie disease be treated?

Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention; however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome. A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness. The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed. The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach.

In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain.

For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired.

Last updated on 05-01-20

Where can I find up-to-date information about potential treatments for Norrie disease?

You can find relevant articles on treatments for Norrie disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "Norrie disease treatment" as your search term should help you locate articles. Click here to view a search: http://www.ncbi.nlm.nih.gov/PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Although there may not be trials listed for this condition at a particular point in time, this site is updated regularly and may be checked often. To find trials involving Norrie disease, click on the link above and use "Norrie disease" as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more.

Last updated on 05-01-20

Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: Norrie Disease Association P.O. Box 3244
Munster, IN, 46321, United States
Email: joinnda@gmail.com Url: http://www.norriedisease.org/
Name: American Foundation for the Blind 1401 South Clark Street Suite 730
Arlington, VA, 22202, United States
Phone: 212-502-7600 Toll Free: 800-232-5463 Fax : 888-545-8331 Email: http://www.afb.org/sendMail.asp Url: http://www.afb.org/
Name: Norrie Disease Foundation NDF PO Box 12476 Colchester
CO1 9RB
United Kingdom
Email: enquiries@norriedisease.org.uk Url: https://norriedisease.org.uk/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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