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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

Kitic N, Chapron T, Metge-Galatoire F, Chehaibou I, Caputo G, Abdelmassih Y
Retina 2024 Apr 1;44(4):669-679. doi: 10.1097/IAE.0000000000004005. PMID: 37973048
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
Rao P, Lertjirachai I, Yonekawa Y, Hasbrook M, Thomas BJ, Wood EH, Mehta N, Mane G, Drenser KA, Trese MT, Capone A Jr
Retina 2020 Jul;40(7):1367-1373. doi: 10.1097/IAE.0000000000002623. PMID: 31404032
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

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
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
Chen KJ, Wang NK, Wu WC
JAMA Ophthalmol 2017 Apr 13;135(4):e165487. doi: 10.1001/jamaophthalmol.2016.5487. PMID: 28418565

Therapy

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
Belin PJ, Lee AC, Greaves G, Kosoy J, Lieberman RM
Eur J Ophthalmol 2019 May;29(3):338-347. Epub 2019 Feb 13 doi: 10.1177/1120672119827773. PMID: 30757919
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

Kitic N, Chapron T, Metge-Galatoire F, Chehaibou I, Caputo G, Abdelmassih Y
Retina 2024 Apr 1;44(4):669-679. doi: 10.1097/IAE.0000000000004005. PMID: 37973048
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
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
Seemab S, Pervaiz N, Zehra R, Anwar S, Bao Y, Abbasi AA
BMC Evol Biol 2019 Mar 8;19(1):72. doi: 10.1186/s12862-019-1400-9. PMID: 30849938Free PMC Article
Benson WE
Trans Am Ophthalmol Soc 1995;93:473-521. PMID: 8719692Free PMC Article

Clinical prediction guides

Wang Y, Lai Y, Jiang Z, Li S, Ding X
Exp Eye Res 2023 Sep;234:109574. Epub 2023 Jul 12 doi: 10.1016/j.exer.2023.109574. PMID: 37451565
Yang M, Li S, Huang L, Zhao R, Dai E, Jiang X, He Y, Lu J, Peng L, Liu W, Zhang Z, Jiang D, Zhang Y, Jiang Z, Yang Y, Zhao P, Zhu X, Ding X, Yang Z
JCI Insight 2022 Jul 22;7(14) doi: 10.1172/jci.insight.158428. PMID: 35700046Free 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
Rao P, Lertjirachai I, Yonekawa Y, Hasbrook M, Thomas BJ, Wood EH, Mehta N, Mane G, Drenser KA, Trese MT, Capone A Jr
Retina 2020 Jul;40(7):1367-1373. doi: 10.1097/IAE.0000000000002623. PMID: 31404032
Lin JB, Sene A, Wiley LA, Santeford A, Nudleman E, Nakamura R, Lin JB, Moolani HV, Apte RS
Exp Eye Res 2018 Sep;174:107-112. Epub 2018 Jun 1 doi: 10.1016/j.exer.2018.05.033. PMID: 29864439Free PMC Article

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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