지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2022.12
- 수록면
- 543 - 549 (7page)
- DOI
- 10.3341/kjo.2022.0079
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초록· 키워드
오류제보하기
Purpose: We investigated the clinical features of Korean patients with retinal capillary hemangioblastoma (RCH) and geneticvariants of the von Hippel-Lindau (VHL) gene.Methods: A retrospective analysis was performed on patients with RCH from 2003 to 2021 at Seoul National UniversityBundang Hospital. Sporadic and hereditary RCH associated with VHL disease were classified based on the specific tumors andfamily history. Clinical features, including the location and number of RCH and bilateral involvement, were investigated. Multiplexligation-dependent probe amplification and direct sequencing targeting the VHL gene were performed for six RCH casesassociated with VHL disease.Results: A total of 18 patients (23 eyes) were enrolled in this study. The mean age at diagnosis was 37 ± 15 years. Twelvepatients had hereditary RCH associated with VHL disease, and six patients had sporadic RCH. All five patients with bilateralRCH were clinically diagnosed with VHL disease, and 13 patients had unilateral RCH. Juxtapapillary RCH was only observed inpatients with VHL. The most common complication of RCH was the epiretinal membrane, followed by the subretinal fluid.Pathogenic variants were identified in four patients. All three patients with type 1 VHL had the well-known missense mutationp.Glu70Lys, and one patient with type 2 VHL had the nonsense mutation p.Trp88Ter.Conclusions: In Korean patients with RCH, bilateral involvement and juxtapapillary RCH are highly likely to be associated withVHL disease. Because RCH may be the first clinical manifestation in patients with VHL, active genetic testing of the VHL geneand systemic evaluation are required.
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