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Exudative vitreoretinopathy 4, autosomal dominant

MedGen UID:: 865275
•Concept ID:: C4016838
•: Finding

Synonym:	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT

OMIM®:	603506

Professional guidelines

PubMed

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

Maccora I, Ebert JJ, Schulert GS, Quinlan-Waters M, Duell A, Huggins JL, Sapp CC, Nguyen T, Srivastava SK, Sood AB, Angeles-Han ST
Ocul Immunol Inflamm 2024 Dec;32(10):2441-2448. Epub 2024 Sep 10 doi: 10.1080/09273948.2024.2401146. PMID: 39254738 Free PMC Article

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Recent clinical studies

Etiology

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

Seo SH, Kim MJ, Park SW, Kim JH, Yu YS, Song JY, Cho SI, Ahn JH, Oh YH, Lee JS, Lee S, Seong MW, Park SS, Kim JY
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6902-6908. doi: 10.1167/iovs.16-20585. PMID: 28002565

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW
Am J Hum Genet 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016. PMID: 20159111 Free PMC Article

Autosomal dominant exudative vitreoretinopathy: linkage analysis and its clinical application.

Fuhrmann C, Duvigneau C, Müller B, Schwinger E, Julier C, Laqua H, Gal A
Ger J Ophthalmol 1995 Jan;4(1):43-6. PMID: 7728109

Falciform retinal fold as sign of familial exudative vitreoretinopathy.

Nishimura M, Yamana T, Sugino M, Kohno T, Yamana Y, Minei M, Sanui H
Jpn J Ophthalmol 1983;27(1):40-53. PMID: 6855020

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Diagnosis

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.

Zhao R, Wang S, Zhao P, Dai E, Zhang X, Peng L, He Y, Yang M, Li S, Yang Z
Clin Exp Ophthalmol 2022 May;50(4):441-448. Epub 2022 Feb 7 doi: 10.1111/ceo.14037. PMID: 35133048

Ho S, Tsang MH, Fung JL, Huang H, Chow CB, Cheng SS, Luk HM, Chung BH, Lo IF
Am J Med Genet A 2022 Jan;188(1):130-137. Epub 2021 Sep 24 doi: 10.1002/ajmg.a.62504. PMID: 34558805

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.

Hu H, Xiao X, Li S, Jia X, Guo X, Zhang Q
Br J Ophthalmol 2016 Feb;100(2):278-83. Epub 2015 Oct 15 doi: 10.1136/bjophthalmol-2015-306878. PMID: 26472404

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Therapy

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

See all (1)

Prognosis

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.

Song Z, Li M, Wang C, Wang Y, Zhang L, Li N, Yang R, Sun P
Ophthalmic Genet 2022 Feb;43(1):104-109. Epub 2021 Aug 27 doi: 10.1080/13816810.2021.1970193. PMID: 34445920

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.

Musada GR, Syed H, Jalali S, Chakrabarti S, Kaur I
BMC Ophthalmol 2016 Jun 17;16:90. doi: 10.1186/s12886-016-0236-y. PMID: 27316669 Free PMC Article

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P
Clin Genet 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. PMID: 9831343

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Clinical prediction guides

Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.

Song Z, Li M, Wang C, Wang Y, Zhang L, Li N, Yang R, Sun P
Ophthalmic Genet 2022 Feb;43(1):104-109. Epub 2021 Aug 27 doi: 10.1080/13816810.2021.1970193. PMID: 34445920

Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.

Musada GR, Syed H, Jalali S, Chakrabarti S, Kaur I
BMC Ophthalmol 2016 Jun 17;16:90. doi: 10.1186/s12886-016-0236-y. PMID: 27316669 Free PMC Article

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

The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.

Li Y, Müller B, Fuhrmann C, van Nouhuys CE, Laqua H, Humphries P, Schwinger E, Gal A
Am J Hum Genet 1992 Oct;51(4):749-54. PMID: 1415220 Free PMC Article

Falciform retinal fold as sign of familial exudative vitreoretinopathy.

Nishimura M, Yamana T, Sugino M, Kohno T, Yamana Y, Minei M, Sanui H
Jpn J Ophthalmol 1983;27(1):40-53. PMID: 6855020

See all (5)

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Exudative vitreoretinopathy 4, autosomal dominant

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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