Exudative vitreoretinopathy 4, autosomal recessive

MedGen UID:: 865276
•Concept ID:: C4016839
•: Finding

Synonym:	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE

OMIM®:	603506

Recent clinical studies

Etiology

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.

Tang M, Sun L, Hu A, Yuan M, Yang Y, Peng X, Ding X
Invest Ophthalmol Vis Sci 2017 Nov 1;58(13):5949-5957. doi: 10.1167/iovs.17-22577. PMID: 29181528

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Diagnosis

Coats plus in prematurity.

López-Cañizares A, Fernandez MP, Al-Khersan H, Carletti P, Arroyo MS, Fernandez-Ruiz MC, Berrocal AM
Ophthalmic Genet 2022 Aug;43(4):543-549. Epub 2022 Apr 13 doi: 10.1080/13816810.2022.2051193. PMID: 35416114

Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408.

Weiner GA, Nudleman E
Ophthalmic Surg Lasers Imaging Retina 2019 Apr 1;50(4):253-256. doi: 10.3928/23258160-20190401-10. PMID: 30998249

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.

Tang M, Sun L, Hu A, Yuan M, Yang Y, Peng X, Ding X
Invest Ophthalmol Vis Sci 2017 Nov 1;58(13):5949-5957. doi: 10.1167/iovs.17-22577. PMID: 29181528

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Prognosis

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.

Tang M, Sun L, Hu A, Yuan M, Yang Y, Peng X, Ding X
Invest Ophthalmol Vis Sci 2017 Nov 1;58(13):5949-5957. doi: 10.1167/iovs.17-22577. PMID: 29181528

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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