Recurrence of corneal dystrophy resulting from an R124H Big-h3 mutation after phototherapeutic keratectomy.
OBJECTIVE
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.
Department of Ophthalmology, Osaka University Medical School E-7, 2-2 Yamadaoka, Suita 565-0871, Osaka, Japan.
Tomoyuki
T
Inoue
Hitoshi
H
Watanabe
Shuji
S
Yamamoto
Naoyuki
N
Maeda
Yoshitsugu
Y
Inoue
Yoshikazu
Y
Shimomura
Yasuo
Y
Tano
D000328:Adult; D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D003318:Corneal Opacity / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016326:Extracellular Matrix Proteins; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D054018:Lasers, Excimer; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D018903:Photorefractive Keratectomy; D017354:Point Mutation; D012008:Recurrence; D013997:Time Factors; D016212:Transforming Growth Factor beta; D014792:Visual Acuity; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein