Journal of the Korean Ophthalmological Society 2003;44(12):2934-2941.
Published online December 1, 2003.
Four Cases of Avellino Corneal Dystrophy Concurrent with Floppy Eyelid Syndrome.
Yun Sang Kim, Hae Sook Kim, Jae Chan Kim
1Department of Ophthalmology, Chung-Ang University College of Medicine, Korea. jck50ey@kornet.net
2Research Institutes of Medical Science, Catholic University College of Medicine, Korea.
Floppy Eyelid 증후군과 동반된 Avellino 각막이영양증 4예
김윤상 ( Kim Yun Sang ) , 김해숙 ( Kim Hae Sug ) , 김재찬 ( Kim Jae Chan )
Abstract
PURPOSE
Avellino corneal dystrophy (ACD) is the most common form of inherited corneal disorder in Korea. To report 4 cases of ACD concurrent with floppy eyelid syndrome (FES), which had not been previously reported, and to find an additional mutation. METHODS: Five patient in 2 families who were diagnosed as ACD patient were examined whether they had FES. PCR, cold-SSCP and sequencing analysis were performed for identification of genetic defect. RESULTS: Four of 5 ACD patients showed FES which characterized by easily everted eyelid and conjunctival papillary reaction. In one family, succeeding two generations had this feature. We identified R124H mutation in all 5 ACD patients, however, no additional mutation wsa identified in BIGH3 gene. CONCLUSIONS: One case series suggested that there may be some linkage between the genes responsible for ACD and FES.
Key Words: Avellino corneal dystrophy;BIGH3 gene;Floppy eyelid syndrome;Mutation;SSCP


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