Corneal Dystrophy, Fuchs Endothelial, 4

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?

A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-4 (FECD4) is caused by heterozygous mutation in the SLC4A11 gene (610206) on chromosome 20p13.

Description

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).

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

Molecular Genetics

Vithana et al. (2008) analyzed the SLC4A11 gene (610206) in 89 patients with late-onset FECD, 8 of whom had a family history of FECD, and identified 4 heterozygous mutations in 1 familial and 3 sporadic cases (610206.0017-610206.0020), respectively.