Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation.
OBJECTIVE
To investigate the frequency of corneal guttata in patients with a corneal dystrophy resulting from an Arg124His (R124H) mutation of betaig-h3 gene.


METHODS
Slit lamp examination was performed on 30 eyes with corneal dystrophy from a genetically confirmed betaig-h3 R124H mutation and on 50 age matched control eyes. The stage of the corneal dystrophy was classified as stage 0, I, or II and the degree of guttata was classified as none, mild, or severe. Specular microscopic examinations were performed to evaluate the morphology of the corneal endothelium.


RESULTS
Slit lamp examination disclosed the presence of corneal guttata in 21 eyes (70%) of the 30 eyes with the corneal dystrophy, but in only one (2%) of the 50 eyes in the age matched control group (p<0.001, chi(2) with Yates's correction). Of the 12 eyes with stage I betaig-h3 R124H corneal dystrophy, seven had no corneal guttata and five had a mild degree of guttata. Of the 18 eyes with stage II, the degree of guttata was none in two, mild in nine, and severe in seven. The degree of corneal guttata was significantly related to the stage of the corneal dystrophy (p<0.0001, Kruskul-Wallis test ANOVA on ranks). There was no significant differences between eyes with betaig-h3 R124H corneal dystrophy and normal eyes in cell density, coefficient of variation, and cell hexagonality of corneal endothelium.


CONCLUSIONS
Corneal guttata are one of the characteristics of the corneal dystrophy resulting from betaig-h3 R124H mutation.
Akimune
C
C
Department of Ophthalmology, Osaka University Medical School, Osaka, Japan.
Watanabe
H
H
Maeda
N
N
Okada
M
M
Yamamoto
S
S
Kiritoshi
A
A
Inoue
Y
Y
Shimomura
Y
Y
Tano
Y
Y
D000368:Aged; D000704:Analysis of Variance; D016022:Case-Control Studies; D003315:Cornea / Q000473:pathology* / Q000601:surgery; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D054018:Lasers, Excimer; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D018903:Photorefractive Keratectomy; D017354:Point Mutation / Q000235:genetics*; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein