TGFBI p.H626R Mutation in a Chinese Family with Lattice Corneal Dystrophy: A Short Report and Literature Review.
Xuan Lu, Ke Zhang, Rubing Liu et al.
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Case in brief
A three-generation Chinese family with lattice corneal dystrophy underwent ophthalmic assessment and genetic testing. Sequencing identified a heterozygous TGFBI c.1877A>G (p.His626Arg) mutation in affected family members. At advanced disease stages, all patients underwent penetrating keratoplasty, after which visual acuity improved. A review of previously reported H626R-associated cases described recurrent corneal erosions, asymmetrical progression, and thick lattice lines extending toward the corneal periphery.
What made this case unusual
The H626R-associated phenotype was described as including thick lattice lines extending toward the corneal periphery and asymmetrical progression, alongside recurrent corneal erosions.
Diagnostic / clinical pearl
In a family with lattice corneal dystrophy, genetic testing can identify TGFBI p.His626Arg; the reported phenotype includes peripheral extension of thick lattice lines and asymmetrical progression.