J Korean Ophthalmol Soc.
2006 Sep;47(9):1496-1501.
Fabry Disease in a Family: Four Patients and Five Carriers
- Affiliations
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- 1Department of Ophthalmology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. hwtchah@amc.seoul.kr
Abstract
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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.
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