Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia.

Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure.

Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Purpose. To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD). Methods. A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders. The proband's parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected. The exons and exon-in...

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy

PURPOSE To identify the molecular defect causing Schnyder crystalline corneal dystrophy (SCCD) in a Chinese family with bilateral corneal abnormalities. METHODS The Chinese SCCD family was subjected to a complete ophthalmic examination that included slit-lamp examination and slit-lamp photography to assess and document the crystalline deposits and arcus lipoides. In vivo laser scanning confoc...

A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy

PURPOSE To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). METHODS A four-generation Chinese family with SCD and 50 unrelated normal individuals as controls were enrolled in. The complete ophthalmic examination was performed and blood samples were taken for subsequent genet...

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.58 Mbp interval on chromosome 1p, exhaustive seq...