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).

Genes related to Corneal Dystrophy, Gelatinous Drop-like; Gdld

TACSTD2

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 Panel GTR000552433 complete gene list C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, NHS, SHH, MFN2, CRYAB, OPA3, FBN1, MTPAP, FYCO1, TMEM126A, PHOX2A, GJA3, STRA6, FRMD7, HCCS, BCOR, CBS, GALK1, CYP27A1, SIX6, CYP4V2, SOX2, HESX1, MYOC, KIF21A, FZD4, COL5A1, COL5A2, KRT3, PAX2, GSN, CHD7, GLA, ADAMTS2, SLC33A1, SIL1, COL4A1, RAB3GAP1, SIX3, TUBB2B, TREX1, VPS13B, ACTB, ACTG1, COL9A1, COL9A3, ERCC2, COL9A2, COL11A1, COL11A2, SLC4A11, MYH9, TFAP2A, TGIF1, ZIC2, PRDM5, ZNF469, GDF6, SLC24A5, LRMDA, CHST6, MAF, FOXE3, LTBP2, ERCC6, RAB3GAP2, CTDP1, GJA1, FTL, RAB18, RARB, VAX1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, TENM3, ALDH1A3, B3GLCT, COL17A1, EPG5, TBC1D20, GRIP1, FREM2, FRAS1, LRP2, C12orf57, COL18A1, ERCC5, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, ADAMTSL4, FAM126A, ADAMTS10, COL4A2, ASPH, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, ATOH7, ERCC1, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, MAB21L2, SMOC1, SLC38A8, MIR184, HMX1, BMP7, AGBL1, ADAMTS17, JAM3, NDUFB11, TMEM114, SALL2, SIPA1L3, TMEM98, OVOL2 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 Panel GTR000553865 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR, PDZD7, RP1, GPR143, OPA1, ABCB6, WFS1, CC2D2A, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, CRYAB, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, AGK, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FYCO1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, GFER, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, GJA3, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, GALT, GALK1, CNGA3, SIX6, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, KRT12, KRT3, PAX2, TEAD1, GSN, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, COL4A1, MFSD8, OFD1, TREX1, VPS13B, CIB2, COL9A1, GIPC3, COL9A2, COL11A1, COL11A2, SLC4A11, MVK, NAA10, PRDM5, ABCC6, ZNF469, GNPTG, UNC119, RAB28, RAX2, PDE6H, CNNM4, GPR179, GDF6, IFT140, CDH3, CHST6, RBP4, WDR19, LZTFL1, WDPCP, SDCCAG8, C19orf12, KIF11, CTDP1, CFH, GJA1, FTL, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, ARL13B, VAX1, FREM1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, B3GLCT, GRIP1, FREM2, FRAS1, LAMA1, ITM2B, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, PLA2G5, RGS9BP, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, HSF4, CRYGS, SMOC1, ADAMTS18, HMX1, JAM3, YAP1, ZNF644 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 Panel GTR000552818 complete gene list ZEB1, TGFBI, PITX2, CYP4V2, COL5A1, KRT12, KRT3, GSN, TCF4, SLC4A11, LOXHD1, PRDM5, ZNF469, CHST6, MAF, FOXE3, LCAT, KERA, COL17A1, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, GJA8, CHRDL1, OVOL2 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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