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Exudative vitreoretinopathy 1; EVR1

Disease ID:350
Name:Exudative vitreoretinopathy 1; EVR1
Associated with:1 target
Exudative vitreoretinopathy | Familial exudative vitreoretinopathy
Database Links
Disease Ontology: DOID:0050535
OMIM: 133780
Orphanet: ORPHA891


Comments:  Mutant FZD4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy (FEVR). Up to now, 58 different FEVR pathogenic mutations have been reported for FZD4, out of which 31 are missense changes scattered throughout the FZD4 protein structure (Stenson et al., 2003). All the mutations (except R417Q) have been shown to cause symptoms associated with FEVR disease in the heterozygous state (Kondo et al., 2007). However, patients have been diagnosed as having more severe forms of FEVR when both alleles of FZD4 are mutated (Kondo et al., 2003).
References:  1-6,9-13
Mutations:  FZD4 is associated with 6 mutation. Click here for details


No ligand related data available for Exudative vitreoretinopathy 1; EVR1


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1. Canny CL, Oliver GL. (1976) Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol, 94 (7): 1114-20. [PMID:947162]

2. Criswick VG, Schepens CL. (1969) Familial exudative vitreoretinopathy. Am J Ophthalmol, 68 (4): 578-94. [PMID:5394449]

3. Gitter KA, Rothschild H, Waltman DD, Scott B, Azar P. (1978) Dominantly inherited peripheral retinal neovascularization. Arch Ophthalmol, 96 (9): 1601-5. [PMID:687201]

4. Gow J, Oliver GL. (1971) Familial exudative vitreoretinopathy. An expanded view. Arch Ophthalmol, 86 (2): 150-5. [PMID:5571414]

5. Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. (2003) Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol, 87 (10): 1291-5. [PMID:14507768]

6. Kondo H, Qin M, Tahira T, Uchio E, Hayashi K. (2007) Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene. Ophthalmic Genet, 28 (4): 220-3. [PMID:18161623]

7. MacDonald ML, Goldberg YP, Macfarlane J, Samuels ME, Trese MT, Shastry BS. (2005) Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. Clin Genet, 67 (4): 363-6. [PMID:15733276]

8. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. (2005) Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat, 26 (2): 104-12. [PMID:15981244]

9. Ranchod TM, Ho LY, Drenser KA, Capone Jr A, Trese MT. (2011) Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology, 118 (10): 2070-5. [PMID:21868098]

10. Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. (2002) Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet, 32: 326-330. [PMID:12172548]

11. Slusher MM, Hutton WE. (1979) Familial exudative vitreoretinopathy. Am J Ophthalmol, 87 (2): 152-6. [PMID:434067]

12. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat, 21 (6): 577-81. [PMID:12754702]

13. Yoshida S, Arita R, Yoshida A, Tada H, Emori A, Noda Y, Nakao S, Fujisawa K, Ishibashi T. (2004) Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. Am J Ophthalmol, 138 (4): 670-1. [PMID:15488808]