Norrie disease
Última actualización 18 Aug 2020
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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 colour, 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.
Descripción
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 colour, 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.
Patrones de herencia
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Anderson-Warburg syndrome
Atrophia bulborum hereditaria
Congenital progressive oculo-acoustico-cerebral degeneration
Episkopi blindness
Fetal iritis syndrome
Norrie syndrome
Norrie's disease
Norrie-Warburg syndrome
Oligophrenia microphthalmus
Pseudoglioma congenita
Whitnall-Norman syndrome
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Lecturas adicionales y referencias
- Norrie disease; MedlinePlus, National Library of Medicine.
- 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. No abstract available.
- Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT. Norrie disease and peripheral venous insufficiency. Br J Ophthalmol. 2004 Nov;88(11):1475. doi: 10.1136/bjo.2004.042556. No abstract available.
- National Organization for Rare Disorders (NORD)
- 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 Jun 1;22(11):4286-92. doi: 10.1523/JNEUROSCI.22-11-04286.2002.
- Rodriguez-Munoz A, Garcia-Garcia G, Menor F, Millan JM, Tomas-Vila M, Jaijo T. The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease. Clin Chem Lab Med. 2018 Jan 26;56(2):229-235. doi: 10.1515/cclm-2017-0226.
- Scruggs BA, Reding MQ, Schimmenti LA. NDP-Related Retinopathies. 1999 Jul 30 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1331/
- Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A. 2012 Aug;158A(8):1909-17. doi: 10.1002/ajmg.a.35469. Epub 2012 Jul 11.
- 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. Epub 2018 Dec 1.
- Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004 Mar 19;116(6):883-95. doi: 10.1016/s0092-8674(04)00216-8.
- Yang H, Li S, Xiao X, Guo X, Zhang Q. Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. Curr Eye Res. 2012 Aug;37(8):726-9. doi: 10.3109/02713683.2012.675615. Epub 2012 May 7.
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