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Familial exudative vitreoretinopathy

MedGen UID:
573220
Concept ID:
C0339539
Congenital Abnormality
Synonyms: Exudative Vitreoretinopathy, Familial; Familial Exudative Vitreoretinopathies; Familial Exudative Vitreoretinopathy; Vitreoretinopathy, Familial Exudative
SNOMED CT: Familial exudative vitreoretinopathy (232063007); FEVR - Familial exudative vitreoretinopathy (232063007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0019516
OMIM® Phenotypic series: PS133780
Orphanet: ORPHA891

Definition

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Lyu J, Zhang Q, Xu Y, Zhang X, Fei P, Zhao P
Retina 2021 Sep 1;41(9):1976-1985. doi: 10.1097/IAE.0000000000003122. PMID: 34432746Free PMC Article
Tauqeer Z, Yonekawa Y
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):176-182. Epub 2018 Apr 9 doi: 10.22608/APO.201855. PMID: 29633588

Recent clinical studies

Etiology

Wang X, Chen J, Xiong H, Yu X
PLoS One 2022;17(7):e0271326. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0271326. PMID: 35830446Free PMC Article
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Tao T, Xu N, Li J, Li H, Qu J, Yin H, Liang J, Zhao M, Li X, Huang L
Invest Ophthalmol Vis Sci 2021 Dec 1;62(15):4. doi: 10.1167/iovs.62.15.4. PMID: 34860240Free PMC Article
Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA, Jackson AP, Mansour S, Moore AT, Michaelides M
Am J Ophthalmol 2019 Nov;207:87-98. Epub 2019 May 8 doi: 10.1016/j.ajo.2019.05.001. PMID: 31077665
Gilmour DF
Eye (Lond) 2015 Jan;29(1):1-14. Epub 2014 Oct 17 doi: 10.1038/eye.2014.70. PMID: 25323851Free PMC Article

Diagnosis

Hu Y, Fan Z, Zhao X, Correa VSMC, Wu Z, Lu X, Zeng X, Chen L, Yu Z, Zheng L, He J, Zhang G
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):27. doi: 10.1167/iovs.64.13.27. PMID: 37850946Free PMC Article
Lu J, Huang L, Sun L, Li S, Zhang Z, Jiang Z, Li J, Ding X
Invest Ophthalmol Vis Sci 2022 Apr 1;63(4):7. doi: 10.1167/iovs.63.4.7. PMID: 35394490Free PMC Article
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Tao T, Xu N, Li J, Li H, Qu J, Yin H, Liang J, Zhao M, Li X, Huang L
Invest Ophthalmol Vis Sci 2021 Dec 1;62(15):4. doi: 10.1167/iovs.62.15.4. PMID: 34860240Free PMC Article
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
Prog Retin Eye Res 2021 May;82:100898. Epub 2020 Aug 26 doi: 10.1016/j.preteyeres.2020.100898. PMID: 32860923

Therapy

Britten-Jones AC, Gocuk SA, Goh KL, Huq A, Edwards TL, Ayton LN
Am J Ophthalmol 2023 May;249:57-73. Epub 2022 Dec 30 doi: 10.1016/j.ajo.2022.12.027. PMID: 36592879
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Yaguchi Y, Katagiri S, Fukushima Y, Yokoi T, Nishina S, Kondo M, Azuma N
Sci Rep 2016 Jul 26;6:30523. doi: 10.1038/srep30523. PMID: 27456314Free PMC Article
Shields CL, Fulco EM, Arias JD, Alarcon C, Pellegrini M, Rishi P, Kaliki S, Bianciotto CG, Shields JA
Eye (Lond) 2013 Feb;27(2):253-64. Epub 2012 Sep 21 doi: 10.1038/eye.2012.175. PMID: 22995941Free PMC Article
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

Prognosis

Chen C, Cheng Y, Zhang Z, Zhang X, Li J, Zhao P, Peng X
BMC Ophthalmol 2022 Aug 2;22(1):329. doi: 10.1186/s12886-022-02522-8. PMID: 35918671Free PMC Article
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. PMID: 33137195Free PMC Article
Coussa RG, Zhao Y, DeBenedictis MJ, Babiuch A, Sears J, Traboulsi EI
Ophthalmic Genet 2020 Feb;41(1):63-68. Epub 2020 Feb 10 doi: 10.1080/13816810.2020.1723118. PMID: 32039639
Liu YQ, Zhu X, Li SJ, Yang YM, Yang M, Zhao PQ, Zhu XJ
Yi Chuan 2017 Mar 20;39(3):241-249. doi: 10.16288/j.yczz.16-339. PMID: 28420620

Clinical prediction guides

Wang Y, Zhang Z, Huang L, Sun L, Li S, Zhang T, Ding X
Genes (Basel) 2022 Apr 18;13(4) doi: 10.3390/genes13040713. PMID: 35456519Free PMC Article
Thanos A, Shwayder T, Papakostas TD, Corradetti G, Capone A Jr, Sarraf D, Shields CL, Trese MT
Ophthalmol Retina 2019 Dec;3(12):1098-1104. Epub 2019 Jul 16 doi: 10.1016/j.oret.2019.07.004. PMID: 31420298
Hsu ST, Finn AP, Chen X, Ngo HT, House RJ, Toth CA, Vajzovic L
Ophthalmic Surg Lasers Imaging Retina 2019 May 1;50(5):322-329. doi: 10.3928/23258160-20190503-11. PMID: 31100165Free PMC Article
Yuan M, Yang Y, Yan H, Li J, Liu R, Li T, Li Y, Liang X, Ding X, Lu L
Retina 2016 Jun;36(6):1209-15. doi: 10.1097/IAE.0000000000000830. PMID: 26655609
Yonekawa Y, Thomas BJ, Drenser KA, Trese MT, Capone A Jr
Ophthalmology 2015 Nov;122(11):2270-7. Epub 2015 Aug 20 doi: 10.1016/j.ophtha.2015.07.024. PMID: 26299697

Recent systematic reviews

Britten-Jones AC, Gocuk SA, Goh KL, Huq A, Edwards TL, Ayton LN
Am J Ophthalmol 2023 May;249:57-73. Epub 2022 Dec 30 doi: 10.1016/j.ajo.2022.12.027. PMID: 36592879
Wang X, Chen J, Xiong H, Yu X
PLoS One 2022;17(7):e0271326. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0271326. PMID: 35830446Free PMC Article
Abikoye TM, Idowu OO, Oluleye TS
Int J Clin Pract 2021 Dec;75(12):e14911. Epub 2021 Sep 26 doi: 10.1111/ijcp.14911. PMID: 34551184

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