Wagner Vitreoretinopathy; Wgvrp

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006).

Genes related to Wagner Vitreoretinopathy; Wgvrp

VCAN

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Clinical Features

Top most frequent phenotypes and symptoms related to Wagner Vitreoretinopathy; Wgvrp

Cataract
Visual impairment
Myopia
Optic atrophy
Blindness
Visual loss
Glaucoma
Nyctalopia
Retinal detachment
Ectopia lentis

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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.

Alternative names

Wagner Vitreoretinopathy; Wgvrp Is also known as erosive vitreoretinopathy, wagner syndrome 1, wagner vitreoretinal degeneration, hyaloideoretinal degeneration of wagner, wgn1, ervr.

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.

Wagner Vitreoretinopathy; Wgvrp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Wagner syndrome (sequence analysis of VCAN gene). By CGC Genetics (Portugal). VCAN Specificity 100 % Genes 100 %
Wagner Syndrome via VCAN Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). VCAN 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 %
Stickler Syndrome Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). LOXL3, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, VCAN, LRP2 Specificity 13 % 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 Panel complete gene list RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1, ACO2, TIMM8A, TIMP3, TREX1, CEP41, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, WFS1, ARL6, RPGRIP1, CDH23, CA4, ADGRA3, CABP4, CACNA1F, PRDM13, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, CAPN5, OR2W3, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, PANK2, RP1L1, DNAJC5, PNPLA6, USH1G, WHRN, TRIM32, TUBGCP4, ZNF423, MFN2, ADAMTS18, ARL2BP, DHX38, RIMS1, PRPF8, TRNT1, PRPF3, PRPF4, ADGRV1, CDH3, INVS, NMNAT1, RDH11, CEP83, MFRP, TUBGCP6, SLC4A5, RCBTB1, RAX2, WDR19, IMPG2, CEP250, IFT27, RTN4IP1, BBS7, CLUAP1, NPHP4, HMCN1, CHM, RD3, KCNV2, VSX2, KIAA0586, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, IFT88, TPP1, CLN3, CLN5, CLN6, CLN8, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, COL11A2, COL18A1, COL9A1, COL9A2, COL9A3, KIAA1549, PEX26, GNPTG, CYP4V2, ACBD5, CRB1, CRX, ADIPOR1, B9D1, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, TMEM216, CTNNA1, CTNNB1, NXNL1, SLC25A46, CTSD, TMEM126A, ARL13B, TTC21B, OFD1, CEP78, TCTN2, CPLANE1, FAM161A, TCTN1, AGBL5, CSPP1, PDZD7, BBS10, CFAP57, ZNF513, HGSNAT, BBS12, C12orf65, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, MFSD8, B9D2, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, WDR35, CC2D2A, IFT80, SLC7A14, IFT43, BBS9, REEP6, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, MIR204, LCA5, EFEMP1, PRCD, ABCA4, PCARE, AIPL1, FBLN5, TMEM231, DTHD1, ISPD, FSCN2, FZD4, GDF6, ALMS1, GJB2, GJB6, GNAT1, GNAT2, AMACR, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCN1, CFH, HK1, HMX1, IDH3A, IDH3B, ABCC6, IMPDH1, IMPG1, ABCD1, ITM2B, JAG1, KCNJ13, KIF11, LAMA1, LARGE1, LRAT, LRP2, LRP5, LZTFL1, MAK, ARL3, MERTK, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, NDP, NEK2, NEUROD1, NPHP1, NPHP3, ATF6, NR2E3, NR2F1, NRL, FRMD7, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGK1, PHYH, PLA2G5, PPT1, PRKCG, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR Specificity 1 % Genes 100 %
Stickler syndrome Comprehensive panel. By Connective Tissue Gene Tests (United States). LOXL3, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, VCAN Specificity 15 % Genes 100 %
Vitreoretinopathy Comprehensive panel. By Connective Tissue Gene Tests (United States). RS1, BEST1, CAPN5, ZNF408, TSPAN12, COL11A1, COL11A2, COL18A1, COL9A1, COL9A2, COL9A3, VCAN, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3 Specificity 6 % Genes 100 %
Vitreoretinopathy Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RS1, BEST1, CAPN5, ZNF408, TSPAN12, COL11A1, COL11A2, COL18A1, COL9A1, COL9A2, COL9A3, VCAN, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3 Specificity 6 % Genes 100 %

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Sources and references

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