Jayne S Weiss, Howard S Kruth, Helena Kuivaniemi, Gerard Tromp, Peter S White, R Scott Winters, Walter Lisch, Wolfram Henn, Elke Denninger, Matthias Krause, Paul Wasson, Neil Ebenezer, Sunil Mahurkar, Michael L Nickerson
PURPOSE: Schnyder crystalline corneal dystrophy (SCCD; MIM 121800) is a rare autosomal dominant disease characterized by an abnormal increase in cholesterol and phospholipid deposition in the cornea, leading to progressive corneal opacification. Although SCCD has been mapped to a genetic interval between markers D1S1160 and D1S1635, reclassification of a previously unaffected individual expanded the interval to D1S2667 and included nine additional genes. Three candidate genes that may be involved in lipid metabolism and/or are expressed in the cornea were analyzed...
November 2007: Investigative Ophthalmology & Visual Science