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.
Highlights
The diagnosis and classification of corneal dystrophies (CD) are mainly based on cornea signs in addition to clinical symptoms
The 24 patients clinically diagnosed with granular corneal dystrophy (GCD) from 23 unrelated families all carried TGFBI gene mutations, and the proportion of R124H, R555Q, R124L, R555W and R124C mutation were 37.5%, 16.7%, 25.0%, 20.8% and 0%, respectively
2 patients suffering from opacities arising after LASIK and PRK surgeries were detected with R124H and R555W mutations respectively
Summary
The diagnosis and classification of corneal dystrophies (CD) are mainly based on cornea signs in addition to clinical symptoms. Atypical corneal dystrophy is often difficult to diagnose and classify by observing opacities on corneas. It could be misdiagnosed before PTK treatment or overlooked prior to refractive surgeries due to lack of signs[1, 2]. There are reports regarding the rapid gene detection methods[9, 10] They provide more efficient detection and more accurate classification for corneal dystrophies, especially when no signs have appeared. For outpatients prior to refractive surgery or PTK, more attention should be paid to the relationship between preoperative corneal abnormalities and gene mutations. Few reports have been published revealing gene mutation types of outpatients before treatment and patients who have not developed significant opacities on corneas. To the best of our knowledge, this is the first introduction of Avellino gene detection kit for genetic www.nature.com/scientificreports/
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