Schnyder's dystrophy of the cornea. A Swede-Finn connection.

Abstract

Schnyder's crystalline dystrophy is an uncommon hereditary disease in which there is abnormal deposition of cholesterol and/or lipid usually in the anterior stroma of the central and peripheral cornea. Four families with Schnyder's dystrophy have been identified in central Massachusetts. Of the 173 living members of these pedigrees, 60 patients were examined by the author. Eighteen patients had Schnyder's dystrophy. Affected individuals less than 23 years of age had bilateral, central disc-like corneal opacification. Those greater than 23 years of age also demonstrated prominent arcus lipoides. By age 40, all affected individuals developed a diffuse stromal haze. Only 50% of affected individuals had corneal crystalline deposits. Abnormal cholesterol deposition affected the entire stromal thickness in the majority of patients. Although the four families said that they were not related to each other, all had ancestry from towns within a 100-k area on the southwest coast of Finland. Patients in this area of Finland were examined by the author and demonstrated signs of Schnyder's dystrophy. This may represent the largest cohort of Schynder's dystrophy described to date.