| 대한안과학회 학술대회 발표 연제 초록 |
| 신경 F-002 |
| 규명되지않는 시신경 위축 환자들의 유전적 원인 |
연세대학교 의과대학 안과학교실, 시기능개발 연구소 |
| 김태영, 신우범, 한승한, 한진우 |
목적 : Patients, especially children, with unexplained optic atrophy (OA) may present with isolated form or accompanied neurologic features. They usually underwent numerous blood test, electroencephalogram, muscle biopsy, or brain MRIs before reaching definite diagnosis. Next generation sequencing (NGS) is widely used in inherited retinal diseases, but clinical utility of NGS in unexplained OA is largely unknown. We attempted to assess the clinical utility of genomic data from NGS in patients with unexplained OA. 방법 : A single center retrospective case series was conducted in 24 patients with unexplained OA who underwent targeted NGS between March 2017 and April 2019. Targeted panel NGS included 429 genes associated with inherited eye diseases was conducted, and additional clinical findings of each optic atrophy patient was analyzed. 결과 : Genetic variants, highly likely to cause OA, were identified in 8 of the 24 patients, corresponding to molecular diagnostic yield of 33%. The NR2F1(n=2), PDHA1(2), PLP1 (1), SOX5 (1), OTX2 (1), SIX3 (1) were identified as causative gene, and targeted NGS facilitated accurate diagnosis of rare syndromic disorders such as Bosch-Boonstra-Schaaf optic atrophy syndrome, Pyruvate dehydrogenase deficiency, Pelizaeus-Merzbacher disease, and Lamb-Shaffer syndrome. BCOR c.3554A>T:p.Glu1185Val deleterious variants were identified in 2 unrelated patients which was absent in genome aggregation database. 결론 : Targeted NGS identified molecular causes in 33% of cases. These findings suggest that NGS can be considered in children with unexplained OA, but the molecular pick-up rate is low. Nevertheless, the targeted NGS enabled rapid genetic diagnosis in rare syndromic OA. |