TGFBI p.H626R Mutation in a Chinese Family with Lattice Corneal Dystrophy: A Short Report and Literature Review.

PURPOSE: To report a Chinese family with lattice corneal dystrophy (LCD) caused by the TGFBI p.H626R mutation and summarize its clinical and genetic characteristics through a literature review.

METHODS

A three-generation Chinese family with LCD was investigated through detailed ophthalmic examination. Whole-exome sequencing followed by Sanger sequencing was performed to identify candidate variants. Bioinformatics tools were used to evaluate pathogenicity. Previously reported cases of H626R-associated LCD were reviewed.

RESULTS

A heterozygous TGFBI mutation (c.1877A>G; p.His626Arg) was identified in affected individuals. All patients underwent penetrating keratoplasty at advanced stages, with improved postoperative visual acuity. A pooled analysis of 109 patients from at least 12 countries indicated that H626R-associated LCD is characterized by recurrent corneal erosions, asymmetrical progression, and thick lattice lines extending toward the corneal periphery.

CONCLUSIONS

The TGFBI p.H626R mutation is associated with a distinct LCD phenotype and contributes to disease progression. Most affected individuals underwent penetrating keratoplasty at the advanced stage of the disease to restore visual acuity.