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Inherited vitreoretinopathy

MedGen UID:
989039
•Concept ID:
CN307276
•
Disease or Syndrome
Synonyms: inherited vitreoretinopathy; Vitreoretinopathy
 
Monarch Initiative: MONDO:0020246
Orphanet: ORPHA98668

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature.
Tabbaa T, Mehra AA, Kesav NP, Mahajan VB, Swanson RD, Zubricky R, Sobol WM
Ophthalmic Genet 2023 Dec;44(6):559-567. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2255257. PMID: 37782277
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.
Wu W, Zhou X, Jiang Z, Zhang D, Yu F, Zhang L, Wang X, Chen S, Xu C
Hum Genomics 2022 Jul 27;16(1):28. doi: 10.1186/s40246-022-00400-4. PMID: 35897115Free PMC Article
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

Recent clinical studies

Etiology

Giant Retinal Tears: Long-Term Outcomes of Fellow Eyes.
Sengillo JD, Smiddy WE, Yannuzzi NA, Flynn HW Jr; Giant Retinal Tear Study Group
Ophthalmic Surg Lasers Imaging Retina 2022 Nov;53(11):619-625. Epub 2022 Nov 1 doi: 10.3928/23258160-20221018-01. PMID: 36378614

Diagnosis

Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration.
Ashkenazy N, Sengillo JD, Iyer PG, Negron CI, Yannuzzi NA, Berrocal AM
Ophthalmic Genet 2023 Oct;44(5):505-508. Epub 2022 Nov 28 doi: 10.1080/13816810.2022.2149816. PMID: 36440807
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy.
Zhong J, Shi J, Zhang X, Xu K, Zhang X, Xie Y, Li Y
Mol Genet Genomic Med 2023 Feb;11(2):e2083. Epub 2022 Nov 5 doi: 10.1002/mgg3.2083. PMID: 36333947Free PMC Article
Giant Retinal Tears: Long-Term Outcomes of Fellow Eyes.
Sengillo JD, Smiddy WE, Yannuzzi NA, Flynn HW Jr; Giant Retinal Tear Study Group
Ophthalmic Surg Lasers Imaging Retina 2022 Nov;53(11):619-625. Epub 2022 Nov 1 doi: 10.3928/23258160-20221018-01. PMID: 36378614
Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.
Li H, Li H, Yang L, Sun Z, Wu S, Sui R
Ophthalmic Genet 2020 Oct;41(5):432-439. Epub 2020 Jul 6 doi: 10.1080/13816810.2020.1786843. PMID: 32623950
Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.
Drenser KA, Dailey W, Vinekar A, Dalal K, Capone A Jr, Trese MT
Arch Ophthalmol 2009 Dec;127(12):1649-54. doi: 10.1001/archophthalmol.2009.322. PMID: 20008721

Therapy

Congenital glaucoma in Wagner syndrome.
Jewsbury H, Fry AE, Watts P, Nas V, Morgan J
J AAPOS 2014 Jun;18(3):291-3. Epub 2014 Apr 24 doi: 10.1016/j.jaapos.2013.12.014. PMID: 24767812

Clinical prediction guides

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
Invest Ophthalmol Vis Sci 2005 Aug;46(8):2726-35. doi: 10.1167/iovs.05-0057. PMID: 16043844

Supplemental Content

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    Reviews

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