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A 20 year observation: multiple PTKs for a pedigree of corneal dystrophy with R124L mutation

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Session Details

Session Title: Presented Poster Session: Refractive

Venue: Poster Village: Pod 3

First Author: : L.Zeng CHINA

Co Author(s): :    J. Zhao   Y. Chen   X. Han   J. Shang   X. Zhou           

Abstract Details


To investigate the efficacy and long-term safety of multiple phototherapeutic keratectomy (PTK) procedures in corneal dystrophy (CD) patients carrying the R124L mutation of the TGFBI gene (Reis-Bücklers corneal dystrophy).


Eye and ENT Hospital of Fudan University, Shanghai, China


This retrospective study was carried out in Eye & ENT hospital affiliated to Fudan University. Ten eyes of five CD patients from one family were included. Routine examinations were performed for all eyes, including slit-lamp observation, tests for best-corrected visual acuity (BCVA), and corneal topography; the TGFBI gene of the patients was screened. PTK treatments were conducted twice for 3 eyes, 3 times for 6 eyes, and 4 times for 1 eye during follow-up. Patients were followed-up for 16-21 years (average, 20 years). SPSS was used for statistical analysis, and statistical significance was defined as a p-value <0.05.


Gene test revealed R124L mutation of TGFBI for all patients. For 28 PTK procedures in 5 subjects over 20 years, the mean value of postoperative LogMAR BCVA (0.41±0.13) improved significantly (p<0.001) compared to preoperative BCVA (1.20±0.14). After each PTK, effective visual acuity was maintained for an average of 3.60 ± 1.12 years. The thinnest thickness of cornea was 371.50 ± 56.47 µm after the last PTK, and the thinnest thickness of cornea at final follow-up (average, 20 years) was 358.40 ± 101.11 µm.


PTK is effective, with long-term safety, in CD patients with an R124L mutation of the TGFBI gene. Multiple PTKs are clinically valuable for patients with recurrence.

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