TY - JOUR
T1 - Two brothers with gelatinous drop-like dystrophy at different stages of the disease
T2 - Role of mutational analysis
AU - Yoshida, Shigeo
AU - Kumano, Yuji
AU - Yoshida, Ayako
AU - Numa, Shin Ichiro
AU - Yabe, Nobuyuki
AU - Hisatomi, Toshio
AU - Nishida, Teruo
AU - Ishibashi, Tatsuro
AU - Matsui, Takao
N1 - Funding Information:
Supported in part by grants from Sumitomo Life Social Welfare Services Foundation (S.Y.), Japan National Society for the Prevention of Blindness (A.Y.) and the Japan Eye Bank Association (A.Y.).
Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2002
Y1 - 2002
N2 - PURPOSE: A report of two Japanese brothers with gelatinous drop-like corneal dystrophy, one with and one without the typical gelatinous drop-like region. DESIGN: 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). CONCLUSION: The Q118X mutation of the M1S1 gene can produce either a gelatinous drop-like region or band-shaped opacities.
AB - PURPOSE: A report of two Japanese brothers with gelatinous drop-like corneal dystrophy, one with and one without the typical gelatinous drop-like region. DESIGN: 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). CONCLUSION: The Q118X mutation of the M1S1 gene can produce either a gelatinous drop-like region or band-shaped opacities.
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U2 - 10.1016/S0002-9394(02)01407-1
DO - 10.1016/S0002-9394(02)01407-1
M3 - Article
C2 - 12036680
AN - SCOPUS:0036260568
SN - 0002-9394
VL - 133
SP - 830
EP - 832
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 6
ER -