Birdshot Chorioretinopathy

Description

Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.

Clinical Features

Top most frequent phenotypes and symptoms related to Birdshot Chorioretinopathy

  • Cataract
  • Visual impairment
  • Blindness
  • Visual loss
  • Photophobia
  • Autoimmunity
  • Nyctalopia
  • Retinal detachment
  • Optic disc pallor
  • Blurred vision

And another 20 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available BIRDSHOT CHORIORETINOPATHY have a estimated prevalence of 0.35 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Birdshot Chorioretinopathy Is also known as birdshot retinochoroidopathy, birdshot retinochoroiditis, birdshot chorioretinitis, bscr, vitiliginous choroiditis.

Researches and researchers

Doctors, researchs, and experts related to Birdshot Chorioretinopathy extracted from public data.

Birdshot Chorioretinopathy Experts map



Current Researchs and researchers

  • TÜBINGEN — Pr Bernd WISSINGER

    Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde Tübingen
    • Research area/topic::

      RETNET: European Retinal Research Training Network



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Birdshot Chorioretinopathy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HLA-A*31:01.

By Genelex (United States).

HLA-A
Specificity
100 %
Genes
34 %
GeneSight Psychotropic.

By Assurex Health, Inc. (United States).

SLC6A4, UGT1A4, UGT2B15, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, HLA-A, HTR2A
Specificity
10 %
Genes
34 %
OneOme RightMed comprehensive test.

By OneOme (United States).

SLCO1B1, SLC6A4, TPMT, UGT1A1, IFNL3, NUDT15, VKORC1, CYP2B6, CYP2C18, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, DRD2, F2, F5, GRIK4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Carbamazepine response.

By Xcode Life Xcode Life (India).

SCN2A, HLA-A
Specificity
50 %
Genes
34 %
Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
34 %
LNPEP.

By Fulgent Genetics Fulgent Genetics (United States).

LNPEP
Specificity
100 %
Genes
34 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
34 %

We have 19 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 CAMURATI-ENGELMANN DISEASE; CAEND COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more