Alternative titles; symbols
SNOMEDCT: 718579008; ORPHA: 293621; DO: 0060446;
Cytogenetic location: Xq25 Genomic coordinates (GRCh38): X:121,800,001-129,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xq25 | Corneal dystrophy, endothelial, X-linked | 300779 | X-linked dominant | 2 |
Schmid et al. (2006) reported a 7-generation family segregating X-linked endothelial corneal dystrophy. Thirty-five trait carriers were identified in 4 generations. Nine male patients demonstrated severe corneal opacifications: 2 had congenital corneal clouding in the form of a ground glass, milky appearance, and 7 had subepithelial band keratopathies combined with endothelial changes resembling moon craters. Twenty-two female and 4 male patients had only moon crater-like endothelial alterations. No male-to-male transmission was observed. Light and electron microscopy showed focal discontinuities, degeneration of the endothelial cell layer, and marked thickening of the Descemet membrane.
By multipoint linkage analysis in a large family segregating endothelial corneal dystrophy, Schmid et al. (2006) found linkage of the disorder to Xq25, between markers DXS8057 and DXS1047 (maximum lod score of 10.90).
Schmid, E., Lisch, W., Philipp, W., Lechner, S., Gottinger, W., Schlotzer-Schrehardt, U., Muller, T., Utermann, G., Janecke, A. R. A new, X-linked endothelial corneal dystrophy. Am. J. Ophthal. 141: 478-487, 2006. [PubMed: 16490493] [Full Text: https://doi.org/10.1016/j.ajo.2005.10.020]