Familial exudative vitreoretinopathy
Dernière mise à jour 6 mars 2025
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Familial exudative vitreoretinopathy is a hereditary disorder that can cause vision loss that worsens over time. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. In people with this disorder, blood vessels do not fully develop at the outer edges (periphery) of the retina, which reduces the blood supply to this tissue. This prolonged reduction in blood supply (chronic ischemia) causes continued damage to the retina and can lead to worsening of the condition.
Description
Familial exudative vitreoretinopathy is a hereditary disorder that can cause vision loss that worsens over time. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. In people with this disorder, blood vessels do not fully develop at the outer edges (periphery) of the retina, which reduces the blood supply to this tissue. This prolonged reduction in blood supply (chronic ischemia) causes continued damage to the retina and can lead to worsening of the condition.
The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. Other people with this condition develop abnormal vessels that leak. This causes chronic inflammation which, over time, can lead to fluid under the retina (exudate). A reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). The resulting retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.
Some people with familial exudative vitreoretinopathy also have a condition known as osteoporosis-pseudoglioma syndrome, which is characterised by reduced bone density. People with this condition have weakened bones and an increased risk of fractures.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; X-linked recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
FEVR
Related patient information and medicines
Patient information leaflet
Décollement de la rétine
La sooner retinal detachment is. In particular, it is best to fix an RD... This can occur as an uncommon complication of various conditions such as very severe high blood pressure, certain cancers and certain types of uveitis. Exudative RD generally resolves avec successful treatment of le underlying disease, with very good recovery. Risk.
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Lectures complémentaires et références
- Familial exudative vitreoretinopathy; MedlinePlus, National Library of Medicine.
- Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, Craig JE, Tengtrisorn S, Carden SM, Maclean H, Mackey DA. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin Exp Ophthalmol. 2006 Sep-Oct;34(7):682-8. doi: 10.1111/j.1442-9071.2006.01314.x.
- Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet. 2004 Nov;75(5):878-84. doi: 10.1086/425080. Epub 2004 Sep 2.
- Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat. 2005 Aug;26(2):104-12. doi: 10.1002/humu.20191.
- Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dube MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002 Oct;32(2):326-30. doi: 10.1038/ng957. Epub 2002 Aug 12.
- 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/
- Shukla D, Singh J, Sudheer G, Soman M, John RK, Ramasamy K, Perumalsamy N. Familial exudative vitreoretinopathy (FEVR). Clinical profile and management. Indian J Ophthalmol. 2003 Dec;51(4):323-8.
- Tao T, Xu N, Li J, Li H, Qu J, Yin H, Liang J, Zhao M, Li X, Huang L. Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):4. doi: 10.1167/iovs.62.15.4.
- Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004 Apr;74(4):721-30. doi: 10.1086/383202. Epub 2004 Mar 11.
- Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Semin Ophthalmol. 2007 Oct-Dec;22(4):211-7. doi: 10.1080/08820530701745124.
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