Abstract: Objective  To study the clinical manifestations and the molecular defects in the βIGH3 gene in a Chinese family with Avellino corneal dystrophy (ACD). Design Experimental study. Participants A Chinese family with ACD. Methods Five generations (75 subjects) of this family were enrolled in the present study. The detailed family history was collected. All subjects were underwent the examinations sequentially as follows: visual acuity, 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. Main Outcome Measures Gene sequences. Results 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-middle stroma. Molecular genetic analysis revealed a single heterozygous C>T at nucleotide 370 in exon 4 of βIGH3 (R124C gene) in all members (eighteen) affected with ACD, but not in the unaffected members. Conclusion The R124C gene mutation was associated with ACD in this Chinese families. This mutation in the βIGH3 gene may induce different phenotypes of corneal dystrophy.

Key words: Avellino corneal dystrophy, βIGH3 gene, R124C, gene mutation