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The prevalence of TGFBI corneal dystrophies in Chinese refractive surgery candidates: primary analysis of 2068 cases in a multicenter study in China

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Session Details

Session Title: Presented Poster Session: Keratorefractive Results II

Venue: Poster Village: Pod 2

First Author: : F.Zhang CHINA

Co Author(s): :    X. Zhou   Q. Wang   Y. Deng   Y. Chen   N. Wang   W. Wei

Abstract Details


Purpose: To determine the prevalenceof the TGFBI (transforming growth factor beta-induced gene) corneal dystrophies in refractive surgery candidates in China.


Multicenter study in China (Beijing Tongren Hospital, Shanghai ENT Hospital, Wenzhou Optometry Hospital, Huaxi Hospital of Sichuan University,3th Hospital of Beijingy University


All subjects underwent slit lamp biomicroscopy and collection of a buccal swab as a source of DNA for screening of TGFBI for the 5 most common mutations (p.R124L in Reis-B├╝ckler's corneal dystrophy (RBCD), p.R555Q in Thiel-Behnke corneal dystrophy (TBCD), p.R555W in granular corneal dystrophy type 1 (GCD1), p.R124H in granular corneal dystrophy type 2 (GCD2), and p.R124C in lattice corneal dystrophy type 1 (LCD1). Main Outcome Measures: Presence of corneal opacities on slit lamp biomicroscopyand the results of TGFBI screening.


Results: A total of 2068refractive surgery candidates were analyzed. Four out of the 2068 subjects demonstrated corneal opacities in both eyes on slit lamp examination. Screening of TGFBI in each of the refractive surgery candidates demonstrated the heterozygous p.R124H mutation associated with GCD2 in each of the four individuals with corneal opacities, in addition to a fifth individual who did not demonstrate any corneal opacities, for a prevalence of 0.24%. Exacerbation of dystrophic corneal deposition developed after laser refractive surgery in two individuals who did not undergo preoperative TGFBI screening.


Conclusions: The prevalence of the TGFBI corneal dystrophies in Chinese refractive surgery candidates is estimated to be approximately 0.24%, corresponding to one in 416 individuals. As not all of the individuals with a TGFBI mutation were diagnosed with corneal opacities, genetic testing is required to identify and exclude from candidacy all individuals with a TGBFI dystrophy prior to elective keratorefractive surgery to avoid causing accelerated postoperative dystrophic deposition.

Financial Disclosure:


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