PURPOSE: To identify the genetic defect in a Chinese family with autosomal 
dominant inherited ectopia lentis.
METHODS: twenty-one family members, including seven patients underwent general 
physical and fully ophthalmic examinations. Genomic DNA was extracted from 
leukocytes of venous blood of these individuals in the family. Polymerase chain 
reaction (PCR) amplification and direct sequencing of all 65 coding exons of the 
fibrillin-1 gene (FBN1) were analyzed.
RESULTS: Mutation screening in FBN1 identified a T>C transition at nucleotide 
position c,1759 leading to substitution of Cysteine for Arginine at codon 587 
(C587R). This nucleotide substitution was not seen in any unaffected member of 
the family.
CONCLUSIONS: We detected a novel mutation in FBN1. Our result expands the 
mutation spectrum of FBN1 and help in the study of the molecular pathogenesis of 
Marfan syndrome and Marfan-related diseases.