Vitreoretinopathy, Neovascular Inflammatory; Vrni

Description

Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.

Clinical Features

Top most frequent phenotypes and symptoms related to Vitreoretinopathy, Neovascular Inflammatory; Vrni

  • Cataract
  • Edema
  • Blindness
  • Coma
  • Rod-cone dystrophy
  • Glaucoma
  • Visual loss
  • Retinopathy
  • Abnormality of the eye
  • Retinal degeneration
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Vitreoretinopathy, Neovascular Inflammatory; Vrni Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, COL2A1, ATP6V0A2, NDP, TSPAN12, FZD4, ISPD, CTNNB1, ZNF408, KIF11, RCBTB1, VCAN, ATOH7, CAPN5
Specificity
8 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy, Neovascular Inflammatory via the CAPN5 Gene.

By PreventionGenetics PreventionGenetics in United States.

CAPN5
Specificity
100 %
Genes
100 %
Exudative vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
Vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
Vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
Familial Exudative Vitreoretinopathy and Wagner syndrome Panel.

By CeGaT GmbH in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, ZNF408, VCAN, CAPN5
Specificity
13 %
Genes
100 %
Vitreoretinopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, LRP5, COL2A1, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5, NDP-AS1
Specificity
6 %
Genes
100 %
Vitreoretinopathy panel.

By Molecular Vision Laboratory in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, ATOH7, CAPN5
Specificity
6 %
Genes
100 %
CAPN5.

By Fulgent Genetics Fulgent Genetics in United States.

CAPN5
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

Alternate names

Vitreoretinopathy, Neovascular Inflammatory; Vrni Is also known as proliferative vitreoretinopathy;pvr, vitreoretinopathy, neovascular inflammatory, autosomal dominant;adniv;adniv.



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