Fabry Disease in a Family: Four Patients and Five Carriers
Journal of the Korean Ophthalmological Society
;
: 1496-1501, 2006.
Article
in Korean
| WPRIM
| ID: wpr-25887
ABSTRACT
PURPOSE:
The purpose of this study is to report the genetic diagnosis of nine cases of Fabry in one family, either as carriers or patients.METHODS:
We conducted analysis of the alpha-galactosidase A gene and ophthalmologic examination of family members of a patient diagnosed with Fabry disease.RESULTS:
Our patient, his brother, and two male cousins had Fabry disease; his mother, three aunts, and his female cousin were Fabry carriers. Genetic study revealed deletion mutation (1235-1236delCT) at the alpha-galactosidase A gene in all subjects. Ophthalmologic examination detected whirl-like corneal opacity in all subjects, which is a typical characteristic of Fabry disease.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Fabry Disease
/
Sequence Deletion
/
Alpha-Galactosidase
/
Corneal Opacity
/
Siblings
/
Diagnosis
/
Mothers
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
Language:
Korean
Journal:
Journal of the Korean Ophthalmological Society
Year:
2006
Type:
Article
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