Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

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 Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

  • Cataract
  • Edema
  • Blindness
  • Visual loss
  • Rod-cone dystrophy
  • Glaucoma
  • Abnormality of the eye
  • Retinopathy
  • Retinal degeneration
  • Retinal detachment

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.
No data available about the known clinical features onset.

Alternative names

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

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.


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Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Vitreoretinopathy, Neovascular Inflammatory via CAPN5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CAPN5
Specificity
100 %
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 %
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

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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