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Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates
Yanzheng Song1, Mingshen Sun1, Ningli Wang1
1From the Beijing Tongren Eye Center (Song, Sun, N. Wang, Zhang), Beijing Tongren Hospital, Capital Medical University and Beijing Ophthalmology & Visual Sciences Key Laboratory, the Peking University Third Hospital (Y. Chen), Beijing, Key Laboratory of Myopia, Ministry of Health, Department of Ophthalmology (Zhou, Zhao), the Eye and ENT Hospital of Fudan University, Shanghai, the Eye Hospital of Wenzhou Medical University (Q. Wang, S. Chen), Wenzhou, the West China Hospital of Sichuan University (Deng, Qiu), Chengdu, China; the Stein Eye Institute (Aldave), University of California Los Angeles Medical Center, Los Angeles, California, USA.
Purpose:
To determine the prevalence of the transforming growth factor (TGF) β-induced gene corneal dystrophies in refractive surgery candidates in China.
Setting:
Five hospitals in China.
Design:
Prospective case series.
Method:
Refractive surgical candidates from 5 preselected eye hospitals/centers in China were recruited after providing informed consent. All patients had slitlamp biomicroscopy and collection of a buccal swab as a source of DNA for screening of the TGF β-induced gene for the 5 most common mutations associated with Reis-Bückler corneal dystrophy, Thiel-Behnke corneal dystrophy, granular corneal dystrophy type 1, granular corneal dystrophy type 2, and lattice corneal dystrophy type 1.
Results:
Of the 2068 refractive surgery candidates analyzed, 4 had corneal opacities in both eyes on slitlamp examination. Screening for the TGF β-induced gene found the heterozygous p.R124H mutation associated with granular corneal dystrophy type 2 in each of the 4 individuals with corneal opacities as well as in a fifth individual who did not have any corneal opacities, for a prevalence of 0.24%. Exacerbation of dystrophic corneal deposition developed after laser refractive surgery in 2 individuals who did not have preoperative TGF β-induced gene screening.
Conclusions:
The prevalence of the TGF β-induced gene corneal dystrophies in Chinese refractive surgery candidates was estimated to be approximately 0.24%. Genetic testing is recommended to identify and exclude from candidacy all individuals with a TGF β-induced gene dystrophy before elective keratorefractive surgery to avoid causing accelerated postoperative dystrophic deposition.
Insights
The prevalence of transforming growth factor (TGF) β-induced gene corneal dystrophies in Chinese refractive surgery candidates is approximately 0.24%. Genetic screening is recommended before surgery to prevent accelerated dystrophic deposition.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Diseases
Background:
- Corneal dystrophies are a group of inherited eye disorders.
- Transforming growth factor (TGF) β-induced gene mutations are associated with several types of corneal dystrophies.
- Identifying these dystrophies in refractive surgery candidates is crucial to prevent complications.
Purpose of the Study:
- To determine the prevalence of TGF β-induced gene corneal dystrophies among refractive surgery candidates in China.
- To assess the risk of accelerated dystrophic deposition after laser refractive surgery in affected individuals.
Main Methods:
- A prospective case series involving 2068 refractive surgery candidates from five Chinese hospitals.
- Slitlamp biomicroscopy and DNA screening of the TGF β-induced gene for common mutations.
- Analysis of mutations associated with Reis-Bückler, Thiel-Behnke, granular, and lattice corneal dystrophies.
Main Results:
- Four out of 2068 candidates (0.19%) had corneal opacities and the p.R124H mutation for granular corneal dystrophy type 2.
- A fifth individual without corneal opacities also carried the mutation, resulting in an overall prevalence of 0.24%.
- Two patients who underwent laser refractive surgery without prior genetic screening experienced exacerbated dystrophic corneal deposition.
Conclusions:
- The prevalence of TGF β-induced gene corneal dystrophies in Chinese refractive surgery candidates is approximately 0.24%.
- Preoperative genetic testing is recommended to identify and exclude individuals with these dystrophies.
- Exclusion is necessary to prevent accelerated postoperative dystrophic deposition following elective keratorefractive surgery.
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