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Article

Rare TGFBI Mutation c.1553T>G p.(L518R) in Lattice Corneal Dystrophy: Comprehensive Clinical and Genetic Analysis in a Chinese Family.

American journal of ophthalmology - 1 Nov 2025

Cui Xinhan, Shu Lian, Liu Binghui, Wang Xiaochun, Li Yue, Chen Yuhong, Wang Yan

Abstract excerpt

PURPOSE: To provide a comprehensive clinical and genetic characterization of a rare variant lattice corneal dystrophy (LCD) from TGFBI mutation c.1553T>G p.(L518R) in a Chinese family. DESIGN: Retrospective observational case study. METHODS: Six patients of a Chinese family with LCD-L518R underwent comprehensive ophthalmic evaluation, including slit-lamp biomicroscopy, anterior segment optical coherence...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Extracellular Matrix Proteins

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Share to Tomography, Optical Coherence

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Source

Identifiers

PMID: 40669590
DOI: 10.1016/j.ajo.2025.07.012

Genes

ALK
TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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