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Exudative vitreoretinopathy, X-linked

MedGen UID:
864931
•Concept ID:
C4016494
•
Finding
Synonym: EXUDATIVE VITREORETINOPATHY, X-LINKED
 
OMIM®: 300658

Professional guidelines

PubMed

Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management.
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
Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.
Drenser KA, Dailey W, Capone A, Trese MT
Ophthalmic Genet 2006 Sep;27(3):75-8. doi: 10.1080/13816810600862402. PMID: 17050281
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C
Mol Vis 2005 Sep 2;11:705-12. PMID: 16163268

Recent clinical studies

Etiology

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
Jia LY, Ma K
BMC Ophthalmol 2021 Feb 15;21(1):84. doi: 10.1186/s12886-021-01852-3. PMID: 33588793Free PMC Article
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.
Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P
Mol Genet Genomic Med 2019 Jan;7(1):e00503. Epub 2018 Nov 25 doi: 10.1002/mgg3.503. PMID: 30474316Free PMC Article
RETINAL DETACHMENT SURGERY IN A PEDIATRIC POPULATION: Visual and Anatomic Outcomes.
Read SP, Aziz HA, Kuriyan A, Kothari N, Davis JL, Smiddy WE, Flynn HW Jr, Murray TG, Berrocal A
Retina 2018 Jul;38(7):1393-1402. doi: 10.1097/IAE.0000000000001725. PMID: 28858062Free PMC Article
Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study.
Yonekawa Y, Wu WC, Kusaka S, Robinson J, Tsujioka D, Kang KB, Shapiro MJ, Padhi TR, Jain L, Sears JE, Kuriyan AE, Berrocal AM, Quiram PA, Gerber AE, Paul Chan RV, Jonas KE, Wong SC, Patel CK, Abbey AM, Spencer R, Blair MP, Chang EY, Papakostas TD, Vavvas DG, Sisk RA, Ferrone PJ, Henderson RH, Olsen KR, Hartnett ME, Chau FY, Mukai S, Murray TG, Thomas BJ, Meza PA, Drenser KA, Trese MT, Capone A Jr
Ophthalmology 2016 Aug;123(8):1802-1808. Epub 2016 May 22 doi: 10.1016/j.ophtha.2016.04.033. PMID: 27221737Free PMC Article
Familial exudative vitreoretinopathy and related retinopathies.
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

Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Hoyek S, Wang M, Berrocal AM, Wong A, Place EM, Mason-Suares H, Lin AE, Mukai S, Patel NA
Ophthalmic Genet 2023 Apr;44(2):198-203. Epub 2022 Jul 14 doi: 10.1080/13816810.2022.2098987. PMID: 35834361
NDP-related retinopathies: clinical phenotype of female carriers.
Huang L, Sun L, Li X, Li S, Zhang T, Zhang Z, Ding X
Br J Ophthalmol 2023 Aug;107(8):1151-1155. Epub 2022 Mar 31 doi: 10.1136/bjophthalmol-2021-320084. PMID: 35361573Free PMC Article
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.
Peng Y, Zhao R, Dai E, Peng L, He Y, Li S, Yang M
Eur J Ophthalmol 2022 Nov;32(6):3220-3226. Epub 2022 Jan 17 doi: 10.1177/11206721221074209. PMID: 35037517
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
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
Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management.
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

Therapy

AN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.
Liu J, Zhang Q, Zhao P
Retina 2023 Nov 1;43(11):2010-2018. doi: 10.1097/IAE.0000000000003892. PMID: 37870909
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry BS, Hejtmancik JF, Trese MT
Hum Mutat 1997;9(5):396-401. doi: 10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2. PMID: 9143917
Norrie disease and MAO genes: nearest neighbors.
Chen ZY, Denney RM, Breakefield XO
Hum Mol Genet 1995;4 Spec No:1729-37. doi: 10.1093/hmg/4.suppl_1.1729. PMID: 8541872

Prognosis

Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Hoyek S, Wang M, Berrocal AM, Wong A, Place EM, Mason-Suares H, Lin AE, Mukai S, Patel NA
Ophthalmic Genet 2023 Apr;44(2):198-203. Epub 2022 Jul 14 doi: 10.1080/13816810.2022.2098987. PMID: 35834361
Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.
Jimenez HJ, Procopio RA, Thuma TBT, Marra MH, Izquierdo N, Klufas MA, Nagiel A, Pennesi ME, Pulido JS
Int J Mol Sci 2022 Nov 1;23(21) doi: 10.3390/ijms232113361. PMID: 36362148Free PMC Article
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.
Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P
Mol Genet Genomic Med 2019 Jan;7(1):e00503. Epub 2018 Nov 25 doi: 10.1002/mgg3.503. PMID: 30474316Free PMC Article
RETINAL DETACHMENT SURGERY IN A PEDIATRIC POPULATION: Visual and Anatomic Outcomes.
Read SP, Aziz HA, Kuriyan A, Kothari N, Davis JL, Smiddy WE, Flynn HW Jr, Murray TG, Berrocal A
Retina 2018 Jul;38(7):1393-1402. doi: 10.1097/IAE.0000000000001725. PMID: 28858062Free PMC Article
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.
Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW
Br J Ophthalmol 1993 Mar;77(3):168-70. doi: 10.1136/bjo.77.3.168. PMID: 8457509Free PMC Article

Clinical prediction guides

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.
Jimenez HJ, Procopio RA, Thuma TBT, Marra MH, Izquierdo N, Klufas MA, Nagiel A, Pennesi ME, Pulido JS
Int J Mol Sci 2022 Nov 1;23(21) doi: 10.3390/ijms232113361. PMID: 36362148Free PMC Article
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.
Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P
Mol Genet Genomic Med 2019 Jan;7(1):e00503. Epub 2018 Nov 25 doi: 10.1002/mgg3.503. PMID: 30474316Free PMC Article
Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Mintz-Hittner HA, Ferrell RE, Sims KB, Fernandez KM, Gemmell BS, Satriano DR, Caster J, Kretzer FL
Ophthalmology 1996 Dec;103(12):2128-34. doi: 10.1016/s0161-6420(96)30379-5. PMID: 9003348
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW
Nat Genet 1993 Oct;5(2):180-3. doi: 10.1038/ng1093-180. PMID: 8252044
X-linked recessive familial exudative vitreoretinopathy.
Plager DA, Orgel IK, Ellis FD, Hartzer M, Trese MT, Shastry BS
Am J Ophthalmol 1992 Aug 15;114(2):145-8. doi: 10.1016/s0002-9394(14)73977-7. PMID: 1642288

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