Norrie disease

Common Name(s)

Norrie disease, Atrophia bulborum hereditaria

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. Some affected individuals may develop hearing loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mutations in the NDP gene cause Norrie disease. It is inherited in an X-linked recessive pattern.
 

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Condition Specific Organizations

Following organizations serve the condition "Norrie disease" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Norrie disease" returned 23 free, full-text research articles on human participants. First 3 results:

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.
 

Author(s): Xiaoyan Huang, Mao Tian, Jiankang Li, Ling Cui, Min Li, Jianguo Zhang

Journal: Indian J Ophthalmol. 2017 Nov;65(11):1161-1165.

 

Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients ...

Last Updated: 31 Dec 1969

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Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
 

Author(s): Ganeswara Rao Musada, Subhadra Jalali, Anjli Hussain, Anupama Reddy Chururu, Pramod Reddy Gaddam, Subhabrata Chakrabarti, Inderjeet Kaur

Journal:

 

Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian ...

Last Updated: 31 Dec 1969

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A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.
 

Author(s): Li Fangting, Huang Lvzhen, Li Xiaoxin

Journal: Acta Ophthalmol. 2016 Sep;94(6):e516-7.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Norrie disease" returned 0 free, full-text review articles on human participants.

 
 
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