Abstract
This chapter is about Norrie disease. The ocular and extraocular features of Norrie disease are explained followed by the management of this rare disease
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Wu WC, Drenser K, Trese M, Capone A Jr, Dailey W. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. Arch Ophthalmol. 2007;125:225–30.
Drenser KA, Fecko A, Dailey W, Trese MT. A characteristic phenotypic retinal appearance in Norrie disease. Retina. 2007;27:243–6.
Walsh MK, Drenser KA, Capone A Jr, Trese MT. Early vitrectomy effective for Norrie disease. Arch Ophthalmol. 2010;128:456–60.
From, https://rarediseases.info.nih.gov/diseases/7224/norrie-disease. Last accesses on 11 Nov 2018.
Rehm HL, Zhang DS, Brown MC, Burgess B, Halpin C, Berger W, Morton CC, Corey DP, Chen ZY. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci. 2002;22:4286–92.
Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL. Audiologic features of Norrie disease. Ann Otol Rhinol Laryngol. 2005;114:533–8.
Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A. 2012;158:1909–17.
Chow CC, Kiernan DF, Chau FY, Blair MP, Ticho BH, Galasso JM, Shapiro MJ. Laser photocoagulation at birth prevents blindness in Norrie’s disease diagnosed using amniocentesis. Ophthalmology. 2010;117:2402–6.
Sisk RA, Hufnagel RB, Bandi S, Polzin WJ, Ahmed ZM. Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. Ophthalmology. 2014;121:1312–3.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Spandau, U., Kim, S.J. (2019). Norrie Disease. In: Pediatric Retinal Vascular Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-13701-4_2
Download citation
DOI: https://doi.org/10.1007/978-3-030-13701-4_2
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-13700-7
Online ISBN: 978-3-030-13701-4
eBook Packages: MedicineMedicine (R0)