J Korean Ophthalmol Soc > Volume 60(4); 2019 > Article
Journal of the Korean Ophthalmological Society 2019;60(4):380-386.
DOI: https://doi.org/10.3341/jkos.2019.60.4.380    Published online April 15, 2019.
A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum.
Eun Hae Shin, Dong Hui Lim, Yoon Duck Kim, Kyung In Woo, Jisang Han, Jong Eun Park, Tae Young Chung, Chang Seok Ki
1Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ldhlse@gmail.com
2Department of Preventive Medicine, Graduate School, The Catholic University of Korea, Seoul, Korea.
3Department of Medicine, Graduate School, Kyung Hee University, Seoul, Korea.
4Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
색소건피증환자의 각막 이형성과 <i>POLH</i> 유전자 변이 확인의 1예
신은혜1⋅임동희1,2⋅김윤덕1⋅우경인1⋅한지상3⋅박종은4⋅정태영1⋅기창석4
성균관대학교 의과대학 삼성서울병원 안과학교실1, 가톨릭대학교 대학원 의학과 예방의학교실2, 경희대학교 대학원 의학과3, 성균관대학교 의과대학 삼성서울병원 진단검사의학과4
Correspondence:  Dong Hui Lim,
Email: ldhlse@gmail.com
Received: 26 April 2018   • Revised: 26 June 2018   • Accepted: 26 March 2019
Abstract
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.
Key Words: Corneal opacity;Genetically identified xeroderma pigmentosum;Limbal dysplasia;Neovascularization;POLH gene


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