Study Of TGFBI Gene Mutation In A Chinese Pedigree With Avellino Corneal Dystrophy

Objective:To study the clinical manifestations and the molecular defects in the βIGH3 gene in a Chinese family with Avellino Corneal dystrophy( ACD).Methods:Five generations(75 subjects) of the family with ACD were enrolled in the present study. A detailed family history was collected. All subjects were underwent the examinations sequentially as follows: vision activity, slit lamp microscope examination,ocular fundus examination and anterior segment optical coherence tomography(AS-OCT). Polymerase chain reaction(PCR) amplification and nucleotide sequencing of exons 4, 11 and 12 of βIGH3 were performed.Results:The number of family is 75 members in 5 generations, including 22 patients and 53 normal persons. The morbidity is 44.89%(picture 1). 18 in 22 patients which mean age was 44.39 + 11.68 years old exist today. the The patients in the family have a common characteristics: both eyes appear eye pain, photophobia, decreased visual acuity, red repeatedly. The average age when the vision began decreasing was 23.17 + 8.56 years.With the increase of age, the degree of corneal opacity and decreased visual acuity increased gradually after 50 years old, eyesight is below 0.1.The clinical features of the disease were characterized by granular and lattice opacities in the stroma of the cornea.AS-OCT showed corneal lesions were deposited in the epithelium and anterior-middlestroma. Molecular genetic analysis revealed a single heterozygous C>T at nucleotide 370 in exon 4 of βIGH3(R124C gene) in all members(eighteen) of the pedigree affected with ACD, but not in the unaffected members.Conclusions:The R124 C gene mutation was associated with ACD in a Chinese family. This mutation in the TGFBI gene may induce different phenotypes of corneal dystrophy.