Exfoliation Syndrome; Xfs

Description

Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Exfoliation Syndrome; Xfs

  • Cataract
  • Hypertension
  • Dilatation
  • Visual loss
  • Glaucoma
  • Rigidity
  • Anisocoria
  • Mydriasis
  • Lens subluxation
  • Retinal vein occlusion

And another 6 symptoms. If you need more information about this disease we can help you.

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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

Exfoliation Syndrome; Xfs Is also known as exfoliation glaucoma, pseudoexfoliation glaucoma, pexg, pseudoexfoliation of the lens, xfg, pexs, pseudoexfoliation syndrome.

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.

Exfoliation Syndrome; Xfs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Exfoliation syndrome, susceptibility to.

By Centogene AG - the Rare Disease Company (Germany).

LOXL1
Specificity
100 %
Genes
100 %
Glaucoma.

By Asper Biogene Asper Biogene LLC (Estonia).

SLC4A4, BEST1, ACVR1, OPTN, ASB10, CANT1, SBF2, COL18A1, CYP1B1, WDR36, FOXC1, LMX1B, LOXL1, LTBP2, LTBP3, MYOC, NTF4, PAX6, PITX2, PITX3
Specificity
5 %
Genes
100 %
Glaucoma.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RPGRIP1, OPTN, ASB10, OLFM2, MFRP, VSX2, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, PRSS56, LOXL1, LTBP2, MYOC, NTF4, OPA1, OPTC, PAX6
Specificity
6 %
Genes
100 %
Glaucoma (Advance).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RPS19, SLC4A4, TTR, BEST1, RPGRIP1, CA4, ACVR1, OPTN, ASB10, OLFM2, RRM2B, MFRP, CANT1, VSX2, SBF2, COL18A1, COL8A2, CYP1B1, SH3PXD2B, WDR36 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RPS19, SLC4A4, TTR, BEST1, CA4, ACVR1, OPTN, RRM2B, CANT1, SBF2, COL18A1, CYP1B1, WDR36, ISPD, FOXC1, LMX1B, LOXL1, LTBP2, MTHFR, MYOC , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
LOXL1.

By Fulgent Genetics Fulgent Genetics (United States).

LOXL1
Specificity
100 %
Genes
100 %
GLAUCOMA NGS ÀNEL.

By Laboratorio de Genetica Clinica SL (Spain).

SLC4A4, TEK, BEST1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL18A1, COL4A1, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, LMX1B, LOXL1, LTBP2, MYOC , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics (Spain).

RPGRIP1, OPTN, ASB10, MFRP, VSX2, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, PRSS56, LOXL1, LTBP2, MYOC, NTF4, OPA1, PAX6
Specificity
6 %
Genes
100 %

You can get up to 0 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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