X-linked endothelial corneal dystrophy (XECD) is a rare form of

corneal dystrophy Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea. Signs and symptoms Corneal dystrophy may not significantly affect v ...

described first in 2006, based on a 4-generation family of 60 members with 9 affected males and 35 trait carriers, which led to mapping the XECD locus to Xq25. It manifests as severe corneal opacification or clouding, sometimes congenital, in the form of a ground glass, milky corneal tissue, and moon crater-like changes of

corneal endothelium The corneal endothelium is a single layer of endothelial cells on the inner surface of the cornea. It faces the chamber formed between the cornea and the iris. The corneal endothelium are specialized, flattened, mitochondria-rich cells that li ...

. Trait carriers manifest only endothelial alterations resembling moon craters. As of December 2014, the molecular basis for this disease remained unknown, although 181 genes were known to be within the XECD locus, of which 68 were known to be protein-coding.

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{{Human corneal dystrophy Disorders of sclera and cornea Rare diseases