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Article

A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.

American journal of ophthalmology - 1 Dec 2023

Fu Mengjun, Duan Shan, Zhang Xiaobo, Wang Jiahao, Wang Sheng, Chi Zai-Long

Abstract excerpt

PURPOSE: To investigate the gene mutations and relationship of clinical manifestation in a Chinese family with familial lattice corneal dystrophy (LCD). DESIGN: Single-family case-control study. METHODS: A family with familial LCD was recruited for this study. A total of 10 affected and 13 healthy family members participated in this research. Clinical features were examined by slit-lamp examination and anterior...

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Case-Control Studies
Cornea
Corneal Dystrophies, Hereditary
DNA Mutational Analysis
East Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Extracellular Matrix Proteins

Transforming Growth Factor beta

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PMID: 37567434
DOI: 10.1016/j.ajo.2023.08.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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