Corneal Dystrophy, Fuchs Endothelial, 7

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

ZEB1, COL8A2, TCF4, SLC4A11, AGBL1, PTPRG, CFH, KANK4, GATD1, LAMC1, CLU, LOXHD1, TGFBI, OVOL2, MMRN1, PITX2, DMPK, SNAI1, NFE2L2, FN1, CUL3, PARK7, AKAP13, TNR, MFN2, MBNL2, DNM1L, XRCC1, DENR, TP53

ZEB1, COL8A2, TCF4, SLC4A11, AGBL1, PTPRG, CFH, KANK4, GATD1, LAMC1, CLU, LOXHD1, TGFBI, OVOL2, MMRN1, PITX2, DMPK, SNAI1, NFE2L2, FN1, CUL3, PARK7, AKAP13, TNR, MFN2, MBNL2, DNM1L, XRCC1, DENR, TP53, UTRN, ACTB, PBK, DICER1, DAPK2, FECD7, FECD3, MIR1236, FECD2, CCR2, MIR29B2, MIR29B1, MIR199B, SBK1, ARHGAP18, ZNF469, NEIL1, PINK1, KIF13A, CHDH, NOX4, VSX1, TGM2, SELE, TF, SOD3, FEN1, ETS1, DMTN, NQO1, CRMP1, COX8A, COL8A1, CDKN2A, CDKN1A, CDH2, CDH1, BDNF, ATP1B1, FASLG, FAS, APOE, APEX1, FGF7, FGF9, FGFR3, PIK3CA, PARP1, CCL21, SAA1, RAD51, PIK3CG, PIK3CD, PIK3CB, MBNL1, GABPA, LIG3, KRT7, IL17A, IGHG1, IFNG, HLA-DRA, GPR35, LOC105378949

Drugs

Autologous cultured endothelial cells on a donor human corneal disk

Interested in hearing about new therapies?

For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).

Nomenclature

This disorder, a late-onset form of Fuchs endothelial corneal dystrophy mapping to chromosome 9p24.1-p22.1, is referred to in OMIM as FECD7. Some references in the literature (e.g., Riazuddin et al., 2010) use the designation 'FCD4 locus' to refer to the genetic locus for FECD on chromosome 9.

Mapping

In a large pedigree with late-onset FECD, Riazuddin et al. (2010) identified a Q840P mutation in the ZEB1 gene (189909.0004) in 7 of 12 affected individuals (see FECD6, 613270). A genomewide scan in the pedigree identified an additional locus for FECD on chromosome 9p24.1-p22.1, with a maximum 2-point lod score of 3.48 at D9S256 (theta = 0.00), in 10 of the 12 affected individuals. Three of the 5 individuals carrying both the Q840P mutation and the disease-transmitting haplotype on 9p were over 70 years of age and had a severe FECD phenotype; all 3 had undergone corneal transplantation. Riazuddin et al. (2010) suggested that mutations either in ZEB1 or at the 9p locus are sufficient for disease, and that genetic interaction between the 2 loci can lead to a more severe form of the disease.