ArticleScientific reports2017
TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Integrative analytical and statistical framework for optimization of multiplex qPCR detection ofJournal of Zhejiang University. Science. B · 2026Article
- Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.Scientific reports · 2025Article
- Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.International journal of molecular sciences · 2021Article
- Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.Frontiers in cell and developmental biology · 2021Article
- Prevalence of granular corneal dystrophy type 2-relatedMolecular vision · 2021Article
- Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK.International journal of ophthalmology · 2021Article
- Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.Eye (London, England) · 2018Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed with granular corneal dystrophy (GCD) prior to phototherapeutic keratectomy (PTK), also calculated the mutation rate of subjects with normal corneas, but positive family history. Clinical GCD outpatients and consanguineous family members were enrolled in this study. Among total 42 subjects: 24 patients from 23 unrelated families had typical signs of GCD on corneas; 5 patients from 5 unrelated families had atypical signs; 13 subjects from 11 unrelated families had no corneal signs but positive family history. Using Avellino gene test kit, the TGFBI mutation detection was performed on DNA samples from all subjects. 36 subjects were detected to carry heterozygous TGFBI gene mutations. Among 24 clinical GCD patients, the proportion of R124H, R555Q, R124L, R555W and R124C were 37.5%, 16.7%, 25.0%, 20.8% and 0%, respectively, and 2 patients had been diagnosed with GCD according to the opacities thriving after LASIK (R124H) and PRK (R555W). The mutation rate of 13 subjects having no signs but positive family history was 69.2%. R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. It is recommended to conduct gene detection for patients with positive family history prior to refractive surgeries.
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