Corneal Dystrophy, Gelatinous Drop-like; Gdld

Description

Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999).

Clinical Features

Phenotypes and symptoms related to Corneal Dystrophy, Gelatinous Drop-like; Gdld

  • Cataract
  • Milia
  • Visual impairment
  • Reduced visual acuity
  • Photophobia
  • Corneal dystrophy
  • Blurred vision
  • Amyloidosis
  • Lattice corneal dystrophy

Incidence and onset information

Not enough data available about incidence and published cases.


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Corneal Dystrophy, Gelatinous Drop-like; Gdld Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TACSTD2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TACSTD2
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 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 %
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via TACSTD2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TACSTD2
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 %
TACSTD2.

By Fulgent Genetics Fulgent Genetics in United States.

TACSTD2
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 %
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, Gelatinous Drop-like; Gdld Is also known as cdgdl, amyloidosis, corneal, amyloid corneal dystrophy, japanese type, corneal dystrophy, lattice type iii, lattice corneal dystrophy, type iii;gdcd; primary familial amyloidosis of the cornea; subepithelial amyloidosis of the cornea.



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