| 대한안과학회 학술대회 발표 연제 초록 |
| 녹 F-013 |
| 원발개방각녹내장 가족의 Ser341Pro MYOC 유전자 변이에 대한 임상 양상 |
(1) 부산대학교 의과대학 안과학교실 (2) 동아대학교 의과대학 진단검사의학과교실 |
| 문상우(1), 김남희(2), 이지웅(1) |
목적 : Glaucoma is an irreversible and chronic progressive optic neuropathy which can occur at all ages, with early onset disease exhibiting Mendelian inheritance. For the first time, we found Ser341Pro mutation in Korean family and analyzed clinical aspects of this genetic mutation in a Korean family with primary open angle glaucoma 방법 : Ten family members from 3 generations participated in this study and received thorough ophthalmologic examination. And we performed focused exome sequencing on a proband to screen approximately 4,800 human disease-associated genes and regions. To confirm the target mutations (MYOC c.1021T>C) in the family members, we performed direct sequencing for MYOC exon 3. 결과 : In our study, we found nucleotide change in eight members from thymine to cytosine at c.1021T>C. Three members were diagnosed with POAG, and two members were diagnosed with glaucoma suspect, three members were considered ‘Carrier’, who had mutation on MYOC gene without expression of clinical manifestation. The penetrance of this pedigree was that 62.50% (5/8) of the individuals carrying the p.S341P mutation had developed POAG or glaucoma suspect. 결론 : The Ser341Pro mutation in a family with POAG was also found in Republic of Korea through our study. And we found that there were various expressions of phenotype, even if there is the same genetic mutation. As we considered, earlier onset of POAG with Ser341Pro MYOC gene mutation was more progressive and gave rise to poor prognosis. Therefore, screening, early detection and follow-up can be performed by classifying whether or not a high risk person has a carrier. In particular, familial and early-onset glaucoma including JOAG should be considered molecular diagnosis actively. |