| 외안F-015 |
| TGFβI Gene의 새로운 A620P Mutation에 의한 hyaline component를 동반한 격자형 각막이상증 환자 가족의 임상양상과 치료 결과에 대한 고찰 |
| 연세대학교 의과대학 안과학교실, 시기능개발연구소 |
| 정지원, 김홍석, 윤상철, 김태임, 이형근, 서경률, 김응권 |
|
목적 : To report a lattice corneal dystrophy (LCD) family from a novel mutation of A620P in TGFβI gene with the long-term treatment and follow-up data and their related pathologic findings.
방법 : Total 28 family members were clinically examined and blood samples or buccal epithelial cells were taken for DNA analysis. All exons from entire coding region of the TGFβI gene were analyzed for mutations in three affected members. Exon 14 was amplified in other family members and 100 controls. Corneal tissues from one affected family member were examined using light and electron microscopy.
결과 : Clinical examination revealed a late-onset LCD with asymmetric progression and recurrent corneal erosion. The affected family members have been treated with PKP, DLKP, PTK for up to 19 years. Screening of TGFβI gene was revealed a novel A620P mutation, which was found in all affected members. The amyloid origin of deposits was confirmed by Congo-red and was also partially stained with Masson trichrome. Although there were no electron-dense bodies, TEM demonstrated that the stromal deposits were not homogenous and contained a variety of constituents with a different electron density.
결론 : We present the characteristics and surgical treatments on the corneae with the novel A620P mutation in TGFBI showing lattice corneal dystrophy combined with hyaline deposits.
|
| |