Tags: Disease.

Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene. Cells in the cornea accumulate cholesterol and phosopholipid deposits leading to the opacity in severe cases requiring corneal transplants. Abnormal cholesterol metabolism has been noted in other cell types of affected patients (skin fibroblasts) suggesting that this may be a systemic disorder with clinical manifestations limited to the cornea.

Loading...

This page contains content from the copyrighted Wikipedia article "Schnyder crystalline corneal dystrophy"; that content is used under the GNU Free Documentation License (GFDL). You may redistribute it, verbatim or modified, providing that you comply with the terms of the GFDL.