Related Experiment Video
Updated: Aug 13, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
TGFBI p.H626R Mutation in a Chinese Family with Lattice Corneal Dystrophy: A Short Report and Literature Review
Xuan Lu1,2, Ke Zhang1, Rubing Liu1,2
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Sun Yat-Sen University, Guangzhou, China.
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.
