Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation.
OBJECTIVE
To report the recurrence pattern of corneal deposits after phototherapeutic keratectomy in patients with corneal dystrophies resulting from homozygous and heterozygous Arg124His (R124H) mutation of the BIG-H3 gene.


METHODS
Slit-lamp examination was performed on patients with corneal dystrophy resulting from a genetically confirmed BIG-H3 R124H mutation.


RESULTS
The recurrence of corneal deposits after phototherapeutic keratectomy in patient with heterozygous R124H mutation was mild; the granular opacities occurred as spot lesions in the central cornea. The patient with a homozygous mutation had a more severe pattern, and the recurrent lesions were diffuse and occurred in the periphery between the corneal epithelium and laser-ablated stroma. The recurrence-free interval in homozygous patients was shorter.


CONCLUSIONS
The mutation genotype of BIG-H3 gene determines the recurrence pattern after phototherapeutic keratectomy.
Inoue
T
T
Department of Ophthalmology, Osaka University Medical School, Suita, Osaka, Japan.
Watanabe
H
H
Yamamoto
S
S
Inoue
Y
Y
Okada
M
M
Hori
Y
Y
Maeda
N
N
Inoue
Y
Y
Hayashi
K
K
Shimomura
Y
Y
Tano
Y
Y
D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D003318:Corneal Opacity / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D054018:Lasers, Excimer; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D018903:Photorefractive Keratectomy / Q000009:adverse effects*; D017354:Point Mutation; D012008:Recurrence; 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