中文摘要：

AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD).METHODS: Complete ophthalmic examinations were performed on all the family members.Exons of TGFBI were amplified by polymerase chain reaction,sequenced,and compared with a reference database.RESULTS: A single heterozygous G】A(R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members,but not in the other family members.CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation.Atypical phenotype and low penetrance was observed in this pedigree.

英文摘要：

AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic EX aminations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: A single heterozygous G>A(R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree..