| Fabry Disease in a Family: Four Patients and Five Carriers. |
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Hee Gyung Lee, Myoung Joon Kim, Chul Young Choi, Hungwon Tchah |
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Department of Ophthalmology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. hwtchah@amc.seoul.kr |
| 한 가족에서 발생한 파브리병 환자 및 파브리병 보인자 9예 |
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이희경,김명준,최철영,차흥원 |
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Department of Ophthalmology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea |
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Correspondence:
Hee Gyung Lee, M.D. |
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| 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. |
| Key Words:
alpha-galactosidase A gene;Corneal opacity;Fabry disease |
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