| 발표일자: |
2015년 11월 6일(금) ~ 11월 8일(일) |
| 발표번호: |
P(e-poster)-267 |
| 발표장소: |
킨텍스 제2전시장 7B홀 |
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| TGFBI 유전자의 새로운 T621P 돌연변이로 인한 지연형 제 IIIA형 격자각막이상증 : 라식 수술 전 필수적인 가족력 문진의 필요성 |
| 1. 연세대학교 의과대학 안과학교실, 시기능개발연구소
2. 각막이상증 연구소 |
| 김상아(1), 이제훈(1), 지용우(1), 박시윤(1), 서경률(1), 김태임(1), 김응권(1,2) |
| 본문 : Purpose : To report the family of novel T621P mutation in TGFBI gene with lattice corneal dystrophy type IIIA in aged members and with clear corneas in early twenties ones.
Methods : All exons of TGFBI gene were analyzed to detect the unknown mutations in the peripheral blood of the proband. After detection of novel mutation in exon 14, each exon 14 was amplified and sequenced in proband's other 10 family members and in 100 control individuals.
Results : Molecular analysis demonstrated sequence change at codon 621 (A heterozygous novel mutation of threonine to proline (T621P)) in exon 14 of the TGFBI gene in all affected family members. Aged affected members’ corneas showed LCD IIIA phenotype. Three family members in their twenties were genetically affected, but did not manifest any abnormal phenotype of the occurrence of the disease. The 26-year-old son of the proband, who had received LASIK 5 years before without noticing his mother’s corneal finding to surgeon and maintains bilateral clear corneas, showed no mutation through the recent genetic test.
Conclusions : We present a delayed onset lattice corneal dystrophy type IIIA (LCD IIIA) associated with the novel T621P mutation in TGFBI gene. Clear cornea of the young patients in delayed onset LCD IIIA makes the surgeon take a careful family history to avoid performing LASIK on the eye with TGFBI mutation. |
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