NORD gratefully acknowledges Katherine B. Sims, MD, Director, Developmental Neurogenetics Clinic, Massachusetts General Hospital and Associate Professor of Neurology, Harvard Medical School, for assistance in the preparation of this report.
Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene.
All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop hearing (auditory) loss which is progressive of many years and some may exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mental retardation may occur in some cases.
Several disorders can occur due to mutation of the NDP gene including persistent hyperplastic primary vitreous (PHPV), X-linked familial exudative vitreoretinopathy (X-linked-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NDP gene. Each of these disorders can also occur secondary to mutations in other genes.
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100