Exudative Vitreoretinopathy 5; Evr5

Description

Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by Poulter et al., 2012).For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Exudative Vitreoretinopathy 5; Evr5

  • Cataract
  • Reduced visual acuity
  • Congenital cataract
  • Retinal detachment
  • Vitreoretinopathy
  • Retinal dysplasia
  • Shallow anterior chamber
  • Exudative vitreoretinopathy
  • Tractional retinal detachment
  • Retinal exudate

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Exudative Vitreoretinopathy 5; Evr5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Exudative vitreoretinopathy 5 (sequence analysis of TSPAN12 gene).

By CGC Genetics (Portugal).

TSPAN12
Specificity
100 %
Genes
100 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ATOH7, CAPN5, RCBTB1, ATP6V0A2, ZNF408, TSPAN12, VCAN, CTNNB1, ISPD, FZD4, KIF11, LRP5, NDP
Specificity
8 %
Genes
100 %
Familial Exudative Vitreoretinopathy 5 (FEVR5) via TSPAN12 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TSPAN12
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Exudative vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

CAPN5, ZNF408, TSPAN12, FZD4, KIF11, LRP5, NDP
Specificity
15 %
Genes
100 %
Exudative vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

CAPN5, ZNF408, TSPAN12, FZD4, KIF11, LRP5, NDP
Specificity
15 %
Genes
100 %
Exudative vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests (United States).

CAPN5, ZNF408, TSPAN12, FZD4, KIF11, LRP5, NDP
Specificity
15 %
Genes
100 %

You can get up to 26 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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