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Familial exudative vitreoretinopathy

MedGen UID:
573220
Concept ID:
C0339539
Disease or Syndrome
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

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
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

Ju Y, Chen T, Ruan L, Zhao Y, Chang Q, Huang X
Hum Genomics 2024 Mar 1;18(1):22. doi: 10.1186/s40246-024-00589-6. PMID: 38424652Free 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
Kondo H, Uchio E, Kusaka S, Higasa K
Ophthalmic Genet 2018 Jun;39(3):405-406. Epub 2017 Nov 14 doi: 10.1080/13816810.2017.1401090. PMID: 29135315
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
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
Chen KJ, Wang NK, Wu WC
JAMA Ophthalmol 2017 Apr 13;135(4):e165487. doi: 10.1001/jamaophthalmol.2016.5487. PMID: 28418565
Ebert EM, Mukai S
Int Ophthalmol Clin 1993 Spring;33(2):237-47. doi: 10.1097/00004397-199303320-00022. PMID: 8325737
Criswick VG, Schepens CL
Am J Ophthalmol 1969 Oct;68(4):578-94. doi: 10.1016/0002-9394(69)91237-9. PMID: 5394449

Therapy

Sawyer C, Huang LC, Vincent J, Cabrera MT, Herlihy E, Mustafi D
Ophthalmol Retina 2024 Feb;8(2):204-206. Epub 2023 Oct 29 doi: 10.1016/j.oret.2023.10.014. PMID: 38707762Free 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
Kumar V, Padhy SK
BMJ Case Rep 2019 Mar 6;12(3) doi: 10.1136/bcr-2018-228711. PMID: 30846457Free 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
Selvan H, Swamy DR, Temkar S, Venkatesh P, Gupta S
J Glaucoma 2018 Jan;27(1):e1-e6. doi: 10.1097/IJG.0000000000000810. PMID: 29088053

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
Dedania VS, Ozgonul C, Besirli CG
Ophthalmic Surg Lasers Imaging Retina 2018 Sep 1;49(9):e83-e88. doi: 10.3928/23258160-20180907-12. PMID: 30222824
Kondo H, Uchio E, Kusaka S, Higasa K
Ophthalmic Genet 2018 Jun;39(3):405-406. Epub 2017 Nov 14 doi: 10.1080/13816810.2017.1401090. PMID: 29135315
Benson WE
Trans Am Ophthalmol Soc 1995;93:473-521. PMID: 8719692Free PMC Article

Clinical prediction guides

Sudnawa KK, Garber A, Cohen R, Calamia S, Kanner CH, Montes J, Bain JM, Fee RJ, Chung WK
Clin Genet 2024 May;105(5):523-532. Epub 2024 Jan 21 doi: 10.1111/cge.14487. PMID: 38247296
Karjosukarso DW, van Gestel SHC, Qu J, Kouwenhoven EN, Duijkers L, Garanto A, Zhou H, Collin RWJ
Hum Mol Genet 2018 Oct 15;27(20):3519-3527. doi: 10.1093/hmg/ddy244. PMID: 29982478
Selvan H, Swamy DR, Temkar S, Venkatesh P, Gupta S
J Glaucoma 2018 Jan;27(1):e1-e6. doi: 10.1097/IJG.0000000000000810. PMID: 29088053
Miyakubo H, Hashimoto K, Miyakubo S
Ophthalmology 1984 Dec;91(12):1524-30. doi: 10.1016/s0161-6420(84)34119-7. PMID: 6084219
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Br J Ophthalmol 1983 Nov;67(11):755-8. doi: 10.1136/bjo.67.11.755. PMID: 6685528Free 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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