Unique phenotype in a Chinese family pedigree: ectopia lentis with varicose great saphenous vein

Objective To report a Chinese family affected with both ectopia lentis and varicose great saphenous vein. Design Observational pedigree report. Participants The family with a total of 53 members in five generations. In the kindred there were 16 affected adults (including 6 deceased), of which 7 were male and 9 were female. Main outcome measures Patients in this family showed an autosomal dominant trait of ectopia lentis and varicose great saphenous vein, occurring in four successive generations. The onset ages for lens dislocation were between 38 and 52 years. No cardiovascular abnormality was observed. Four patients underwent intracapsular lens extraction surgery. Conclusions The phenotype of this family showed similarities with Marfan-related disorders. This is a unique phenotype of ectopia lentis with varicose great saphenous vein.