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Recurrence of Corneal Dystrophy Resulting from an R124H Big-h3 Mutation After Phototherapeutic Keratectomy

Inoue, Tomoyuki M.D.; Watanabe, Hitoshi M.D.; Yamamoto, Shuji M.D.; Maeda, Naoyuki M.D.; Inoue, Yoshitsugu M.D.; Shimomura, Yoshikazu M.D.; Tano, Yasuo M.D.

Clinical Sciences

Purpose. The purpose of the study was to investigate the recurrence-free interval after phototherapeutic keratectomy (PTK) in patients with corneal dystrophies resulting from an Arg124His (R124H) mutation of the Big-h3 gene.

Methods. Patients with corneal dystrophy resulting from a genetically confirmed Big-h3 R124H mutation were examined with a slit lamp. The patients were divided into two groups on the basis of the mutation genotype, and the recurrence-free interval was analyzed.

Results. In the 4 eyes of 3 homozygous patients, the mean (± standard deviation [SD]) recurrence-free interval was 9.5 ± 3.1 months, whereas in the 7 eyes of 4 heterozygous patients it was 38.4 ± 6.2 months. The former interval was statistically shorter than the latter (Kaplan–Meier survival analysis with log-rank test, p = 0.004).

Conclusions. These results strongly suggest that the mutation genotype of Big-h3 gene determined the recurrence-free interval as well as the clinical picture after PTK. Therefore, PTK should be considered for patients with Big-h3 R124H corneal dystrophy, on the basis of the expected recurrence-free interval deduced from molecular analysis of the zygosity of the Big-h3 R124H mutation.

From the Departments of Ophthalmology (T.I., H.W., S.Y., N.M., Y.I., Y.T.), Osaka University Medical School, Osaka; and Kinki University School of Medicine (Y.S.), Kinki, Japan.

Submitted September 25, 2001.

Revision received March 4, 2002.

Accepted March 7, 2002.

Supported in part by grant-in-aid no. 13671838 for scientific research from the Japanese Ministry of Education, Science, Sports, and Culture, a health science grant from the Japanese Ministry of Health and Welfare, and an Osaka Eye Bank Foundation grant (to Dr. Watanabe).

Address correspondence and reprint requests to Dr. H. Watanabe, Department of Ophthalmology, Osaka University Medical School E-7, 2-2 Yamadaoka, Suita 565-0871, Japan. E-mail:

© 2002 Lippincott Williams & Wilkins, Inc.