Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 박종은 | - |
dc.date.accessioned | 2021-05-07T01:23:11Z | - |
dc.date.available | 2021-05-07T01:23:11Z | - |
dc.date.issued | 2019-04 | - |
dc.identifier.citation | Journal of Korean Ophthalmological Society, v. 60, no. 4, page. 380-386 | en_US |
dc.identifier.issn | 0378-6471 | - |
dc.identifier.issn | 2092-9374 | - |
dc.identifier.uri | https://www.jkos.org/journal/view.php?doi=10.3341/jkos.2019.60.4.380 | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/161912 | - |
dc.description.abstract | 목적: 색소건피증환자의 각막 이형성과 유전자에 기반한 진단에 대하여 논하고자 한다. 증례요약: 42세 여환이 좌안 시력저하와 각막 혼탁을 주소로 내원하였다. 상환은 좌측 하안검의 바닥편평상피암종, 얼굴 피부의 신경섬유종, 악성 흑색종으로 수 차례 수술을 받은 과거력 있었다. 각막표면의 반복적인 병변과 함께 가지모양 궤양이 의심되어 항바이러스 치료를 시작하였으나 효과가 없었고, 단순포진 바이러스의 중합효소 연쇄반응검사는 음성이었다. 정기적인 외래 관찰하였으나, 좌측 각막윤부로 신생혈관이 발생하였으며 불규칙한 각막 표면을 보였다. 이에 각막상피절제술을 시행하였고 자가혈청 안약을 처방하였다. 이후 환자의 시력 및 각막 표면이 호전되었다. 각막 압흔검사상 각막 이형성 소견이 나왔으며, 전장유전체 염기 서열분석에서 POLH 유전자에 관해 두 가지 병원성 변이형과 하나의 유사 병원성 변이형이 검출되었다. 결론: 본 증례는 국내 최초로 색소건피증환자에서 눈꺼풀과 각막의 안과적 병변의 대한 기술과 치료 및 유전학적 진단 결과도 논하였다. 색소건피증환자에서 불규칙한 각막 표면에 대한 상피절제술과 자가혈청 안약의 사용이 시력 향상에 도움이 될 수 있다. Purpose: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. Case summary: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient’s visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. Conclusions: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity. | en_US |
dc.description.sponsorship | This work was supported by the National Research Foundation of Korea grant funded by the Korea government Ministry of Education (NRF-2018R1D1A1A02045884; Seoul, Korea), which was received by DHL.. | en_US |
dc.language.iso | ko_KR | en_US |
dc.publisher | Korean Ophthalmological Society | en_US |
dc.subject | Corneal opacity | en_US |
dc.subject | Genetically identified xeroderma pigmentosum | en_US |
dc.subject | Limbal dysplasia | en_US |
dc.subject | Neovascularization | en_US |
dc.subject | POLH gene | en_US |
dc.title | 색소건피증환자의 각막 이형성과 POLH 유전자 변이 확인의 1예 | en_US |
dc.title.alternative | A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum | en_US |
dc.type | Article | en_US |
dc.relation.no | 4 | - |
dc.relation.volume | 60 | - |
dc.identifier.doi | 10.3341/jkos.2019.60.4.380 | - |
dc.relation.page | 380-386 | - |
dc.relation.journal | Journal of Korean Ophthalmological Society | - |
dc.contributor.googleauthor | 신은혜 | - |
dc.contributor.googleauthor | 임동희 | - |
dc.contributor.googleauthor | 김윤덕 | - |
dc.contributor.googleauthor | 우경인 | - |
dc.contributor.googleauthor | 한지상 | - |
dc.contributor.googleauthor | 박종은 | - |
dc.contributor.googleauthor | 정태영 | - |
dc.contributor.googleauthor | 기창석 | - |
dc.contributor.googleauthor | Shin, Eun Hae | - |
dc.contributor.googleauthor | Lim, Dong Hui | - |
dc.contributor.googleauthor | Kim, Yoon-Duck | - |
dc.contributor.googleauthor | Woo, Kyung In | - |
dc.contributor.googleauthor | Han, Jisang | - |
dc.contributor.googleauthor | Park, Jong Eun | - |
dc.contributor.googleauthor | Chung, Tae-Young | - |
dc.contributor.googleauthor | Ki, Chang-Seok | - |
dc.relation.code | 2019022739 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | jongeun820 | - |
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