NORRIE Disease

Summarized by Plex Health
Last Updated: 02 May 2022
mutation spectrum of the norrie disease pseudoglioma (ndp) gene in indian patients with fevr. "mutation spectrum of the norrie disease pseudoglioma (ndp) gene in indian patients with fevr.", by Musada GR, Jalali S, Hussain A, Chururu AR, Gaddam PR, Chakrabarti S, Kaur I. f4: Fundus photographs and fluorescein angiogram pictures of the patients with FEVR with novel changes (p.H50D, p.G113D, and p.D23EfsX9) identified in the NDP gene. A: Patient ID: family 33-II:2 (p.H50D); the right eye of the...

Norrie disease is an inherited eye disorder that results in blindness in male infants at birth or quickly after birth. Norrie disease is brought on by mutations in the NDP gene. Early treatment and special education and learning solutions are essential to ensure that children with Norrie disease reach their complete possibility. Norrie disease is brought on by a change in the NDP gene, which lies on the X chromosome. In certain, the norrin protein appears to play an essential role in the development of retinal cells in the eye. Mutations in the NDP gene can protect against the norrin protein from working appropriately, resulting in the signs and symptoms of Norrie disease. Due to the fact that most men with Norrie disease have complete retinal detachment at the time of birth, medical intervention after that time is generally not reliable for protecting sight. We were incapable to discover reports about bring back sight to affected individuals after view has been lost. A more recent instance report reported proof that instant, preventative laser treatment at birth may stop retinal detachment and blindness. The writers of this report state that although the outcomes they accomplished are motivating, longer monitoring of a bigger number of patients is needed to determine the effectivness of this new approach. In some cases, surgical procedure might be called for when development of the problem leads to increased pressure within the eye. Rarely, enucleation of the eye might be needed to control pain. For people with hearing loss, hearing help enhancement is usually effective until middle or late adulthood. Cochlear implants may be considered when function is significantly damaged.

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