Correlation between clinical classification and TGFBI gene mutation in patients with corneal dystrophy in Hainan

Objective To analyze the correlation between clinical classification and TGFBI gene mutation in patients with corneal dystrophy in Hainan, and understand the type and hot spot of TGFBI gene mutation. Methods Total 32 patients with different types of corneal dystrophy admitted to the outpatient clinics and ophthalmology departments of Hainan province from August 2012 to February 2019 were collected and given clinically analyzed. The family status of the patients was investigated and the blood TGFBI gene mutations in the family were detected and analyzed. Results Among 32 patients, 6 were epithelial lamellar corneal dystrophy, 22 stromal corneal dystrophy and 4 posterior corneal dystrophy. A total of 88 members of the family were retrospectively surveyed and there were 40 members of TGFBI gene mutation, with the mutation rates 45.5%. There were 24 patients of TGFBI gene mutation in corneal dystrophy patients, with the mutation rates 75.0%. In the 32 patients, the TGFBI gene mutations in epithelial lamellar corneal dystrophy, stromal corneal dystrophy, and posterior corneal dystrophy were 83.3%, 68.2%, and 100.0%, respectively, with no statistically significant(P>0.05). Conclusion The clinical classification of corneal dystrophy in Hainan is mostly stromal corneal dystrophy. The incidence of TGFBI gene mutation is relatively high, and most of them are occurring in the fourth exon. There is no significant correlation between the clinical classification and TGFBI gene mutation.