MedlinePlus Genetics :
43
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop.About 30 percent of individuals with Norrie disease develop progressive hearing loss, and 30 to 50 percent of people affected experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.
MalaCards based summary :
Norrie Disease, also known as
atrophia bulborum hereditaria, is related to
persistent hyperplastic primary vitreous, autosomal recessive and
osteoporosis-pseudoglioma syndrome. An important gene associated with Norrie Disease is
NDP (Norrin Cystine Knot Growth Factor NDP), and among its related pathways/superpathways are
Human Embryonic Stem Cell Pluripotency and
WNT Signaling. The drugs
Sodium citrate and
Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include
eye,
retina and
cerebellum, and related phenotypes are
cataract and
macrotia
Disease Ontology :
12
A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has material basis in mutation in the NDP gene on chromosome Xp11.
GARD :
20
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.
OMIM® :
57
Norrie disease is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992).
Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (Duke-Elder, 1958).
(310600) (Updated 05-Mar-2021)
KEGG :
36
Norrie disease is a severe X-linked recessive form of congenital blindness, which in about one-half of the cases is accompanied by mental retardation and deafness. Mutations in NDP have been reported.
UniProtKB/Swiss-Prot :
73
Norrie disease: Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.
Wikipedia :
74
Norrie disease is a rare disease and genetic disorder that primarily affects the eyes and almost always...
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Rare neurological diseases 
