Corneal Dystrophy, Reis-bucklers Type; Cdrb

Description

Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.

Clinical Features

Phenotypes and symptoms related to Corneal Dystrophy, Reis-bucklers Type; Cdrb

  • Strabismus
  • Visual loss
  • Photophobia
  • Ranula
  • Opacification of the corneal stroma
  • Corneal dystrophy
  • Corneal erosion
  • Granular corneal dystrophy

Incidence and onset information

Not enough data available about incidence and published cases.


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Corneal Dystrophy, Reis-bucklers Type; Cdrb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
TGFBI Mutation Analysis.

By Molecular Diagnostics Laboratory Duke University Health System in United States.

TGFBI
Specificity
100 %
Genes
100 %
TGFBI.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TGFBI
Specificity
100 %
Genes
100 %
TGFBI. Detection of the mutations in 124 and 555 codons by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TGFBI
Specificity
100 %
Genes
100 %
TGFBI. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TGFBI
Specificity
100 %
Genes
100 %
Corneal dystrophy, Avellino type (mutations pArg555trp and pArg124His on TGFBI gene).

By CGC Genetics in Portugal.

TGFBI
Specificity
100 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Corneal dystrophy, TGFBI gene mutation analysis.

By Laboratory of Genetics HUSLAB in Finland.

TGFBI
Specificity
100 %
Genes
100 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VSX1, ZEB1, TGFBI, KRT12, KRT3, SLC4A11, CHST6, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, AGBL1
Specificity
8 %
Genes
100 %
TGFBI-Associated Corneal Dystrophies via TGFBI Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGFBI
Specificity
100 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Corneal Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

VSX1, ZEB1, TGFBI, CYP4V2, KRT12, KRT3, SOD1, GSN, TCF4, SLC4A11, LOXHD1, PRDM5, ZNF469, CHST6, COL17A1, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2
Specificity
5 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Corneal dystrophy, TGFBI sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

TGFBI
Specificity
100 %
Genes
100 %
TGFBI mutation screen.

By Molecular Diagnosis Centre National University Hospital in Singapore.

TGFBI
Specificity
100 %
Genes
100 %
TGFBI.

By Fulgent Genetics Fulgent Genetics in United States.

TGFBI
Specificity
100 %
Genes
100 %
Corneal Dystrophy Panel.

By Blueprint Genetics in Finland.

ZEB1, TGFBI, PITX2, CYP4V2, COL5A1, KRT12, KRT3, GSN, TCF4, SLC4A11, LOXHD1, PRDM5, ZNF469, CHST6, MAF, FOXE3, LCAT, KERA, COL17A1, COL8A2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Reis-B���¼cklers corneal dystrophy.

By Bioarray in Spain.

TGFBI
Specificity
100 %
Genes
100 %
Avellino Universal Test for Corneal Dystrophies.

By Avellino Lab USA, Inc. in United States.

TGFBI
Specificity
100 %
Genes
100 %
GRANULAR CORNEAL DYSTROPHY.

By Laboratorio de Genetica Clinica SL in Spain.

TGFBI
Specificity
100 %
Genes
100 %
Lattice Corneal Dystrophy Type I , Sequencing TGFBI Gene.

By Reference Laboratory Genetics in Spain.

TGFBI
Specificity
100 %
Genes
100 %
Reis-Buckler Corneal Distrophy , Sequencing TGFBI Gene.

By Reference Laboratory Genetics in Spain.

TGFBI
Specificity
100 %
Genes
100 %
Corneal Dystrophy Type Avellino , Sequencing TGFBI Gene.

By Reference Laboratory Genetics in Spain.

TGFBI
Specificity
100 %
Genes
100 %
Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

VSX1, ZEB1, TGFBI, CYP4V2, COL5A1, KRT12, KRT3, GSN, TCF4, SLC4A11, PRDM5, ZNF469, CHST6, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2
Specificity
6 %
Genes
100 %

Alternate names

Corneal Dystrophy, Reis-bucklers Type; Cdrb Is also known as reis-bucklers corneal dystrophy;rbcd, corneal dystrophy of bowman layer, type i;cdb1, corneal dystrophy, geographic, granular corneal dystrophy, type iii;anterior limiting membrane dystrophy type 1; anterior limiting membrane dystrophy type i; atypical granular corneal dystrophy; corneal dystrophy of bowman layer type 1; corneal dystrophy of bowman layer type i; geographic corneal dystrophy; granular corneal dystrophy type 3; granular corneal dystrophy type iii; rbcd; superficial granular corneal dystrophy.



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