Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis.
OBJECTIVE
A report of two Japanese brothers with gelatinous drop-like corneal dystrophy, one with and one without the typical gelatinous drop-like region.


METHODS
Interventional case report and observational case report.


METHODS
After penetrating keratoplasty, the corneal button, right eye, of the elder brother, 39 years of age, was stained and examined by microscopy. The M1S1 and BIGH3 genes were examined for mutations using the polymerase chain reaction and direct sequencing. Corneal abnormalities in the younger brother, 37 years of age, were observed.


RESULTS
The elder brother had bilateral gelatinous prominences and band-shaped corneal opacities, whereas the younger brother had only bilateral band-shaped opacities. Histologically, corneal deposits beneath the epithelium stained with Congo red. Molecular genetic analysis revealed that M1S1 was homozygously mutated in both brothers (Q118X).


CONCLUSIONS
The Q118X mutation of the M1S1 gene can produce either a gelatinous drop-like region or band-shaped opacities.
Yoshida
Shigeo
S
Department of Ophthalmology, Kyushu University Graduate School of Medicine, (S.Y., A.Y., T.H., T.I.), Fukuoka, Japan
Kumano
Yuji
Y
Yoshida
Ayako
A
Numa
Shin-ichiro
S
Yabe
Nobuyuki
N
Hisatomi
Toshio
T
Nishida
Teruo
T
Ishibashi
Tatsuro
T
Matsui
Takao
T
D000328:Adult; D000951:Antigens, Neoplasm / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D003241:Consanguinity; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D000071858:Epithelial Cell Adhesion Molecule; D016326:Extracellular Matrix Proteins; D006801:Humans; D015948:Keratoplasty, Penetrating; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D009679:Nuclear Family; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
D000951:Antigens, Neoplasm; D014408:Biomarkers, Tumor; D015815:Cell Adhesion Molecules; D004247:DNA; D000071858:Epithelial Cell Adhesion Molecule; D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein