PURPOSE To report UBIAD1洀椀猀猀攀渀猀攀 mutation in a three-generation Chinese family with Schnyder corneal dystrophy (SCD) and further clarify its clinical appearances, histological anomalies and the locus of mutation.
METHODS: The available members were subjected to have a complete ophthalmic examination. Blood samples were collected for genetic and blood lipid analysis. Deep lamellar keratoplasty (DLKP) were performed on proband’s father. Histopathologic and electron microscopic studies were performed on the excised corneal button.
RESULTS:  Screening of UBIAD1 gene in affected patients identified a mutation (p.Asn102Ser). The patient with DLKP showed a good visual outcome. Both histopathologic and electron microscopic studies showed positive results with lipid deposits.
CONCLUSIONS: We were to report on an aberrant heterozygous mutation of UBIAD1, p.Asn102Ser (p.N102S) identified in a family with SCD.