Norrie Disease

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Xu, R. Norrie Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4632 (accessed on 26 September 2026).

Xu R. Norrie Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4632. Accessed September 26, 2026.

Xu, Rita. "Norrie Disease" Encyclopedia, https://encyclopedia.pub/entry/4632 (accessed September 26, 2026).

Xu, R. (2020, December 24). Norrie Disease. In Encyclopedia. https://encyclopedia.pub/entry/4632

Xu, Rita. "Norrie Disease." Encyclopedia. Web. 24 December, 2020.

Norrie Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/norrie-disease

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.

genetic conditions

References

Braunger BM, Tamm ER. The different functions of Norrin. Adv Exp Med Biol.2012;723:679-83. doi: 10.1007/978-1-4614-0631-0_86. Review.
Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT. Norrie disease andperipheral venous insufficiency. Br J Ophthalmol. 2004 Nov;88(11):1475. Erratumin: Br J Ophthalmol. 2005 May;89(5):645.
National Organization for Rare Disorders (NORD)
Rehm HL, Zhang DS, Brown MC, Burgess B, Halpin C, Berger W, Morton CC, CoreyDP, Chen ZY. Vascular defects and sensorineural deafness in a mouse model ofNorrie disease. J Neurosci. 2002 Jun 1;22(11):4286-92.
Rodríguez-Muñoz A, García-García G, Menor F, Millán JM, Tomás-Vila M, Jaijo T.The importance of biochemical and genetic findings in the diagnosis of atypicalNorrie disease. Clin Chem Lab Med. 2018 Jan 26;56(2):229-235. doi:10.1515/cclm-2017-0226.
Sims KB. NDP-Related Retinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCEONLY. 1999 Jul 30 [updated 2014 Sep 18]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1331/
Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL. Norrie disease: extraocularclinical manifestations in 56 patients. Am J Med Genet A. 2012Aug;158A(8):1909-17. doi: 10.1002/ajmg.a.35469.
Wang Z, Liu CH, Huang S, Chen J. Wnt Signaling in vascular eye diseases. Prog Retin Eye Res. 2019 May;70:110-133. doi: 10.1016/j.preteyeres.2018.11.008.
Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, JiangL, Tasman W, Zhang K, Nathans J. Vascular development in the retina and innerear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.Cell. 2004 Mar 19;116(6):883-95.
Yang H, Li S, Xiao X, Guo X, Zhang Q. Screening for NDP mutations in 44unrelated patients with familial exudative vitreoretinopathy or Norrie disease.Curr Eye Res. 2012 Aug;37(8):726-9. doi: 10.3109/02713683.2012.675615.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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