Chronic clinical course of two patients with severe corneal dystrophy caused by homozygous R124H mutations in the betaig-h3 gene.
OBJECTIVE
To report the chronic clinical course of two patients with homozygous R124H mutations in the betaig-h3 gene.


METHODS
Case reports.


RESULTS
Two patients with homozygous R124H mutations in the betaig-h3 gene developed severe juvenile corneal opacities that required keratoplasty. After surgery, corneal opacities recurred and limited the recovery of visual acuity in the chronic follow-up.


CONCLUSIONS
In patients with homozygous R124H mutations in the betaig-h3 gene, recurrence of corneal opacities after keratoplasty limits the recovery of visual acuity in the chronic follow-up.
Kaji
Y
Y
Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan.
Amano
S
S
Oshika
T
T
Usui
T
T
Kitagawa
M
M
Mimura
T
T
Matsubara
M
M
D002648:Child; D002908:Chronic Disease; 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; D006801:Humans; D015948:Keratoplasty, Penetrating; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D017354:Point Mutation; D012008:Recurrence; D017422:Sequence Analysis, DNA; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014792:Visual Acuity; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein