A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum
Journal of the Korean Ophthalmological Society
; : 380-386, 2019.
Article
在 Ko
| WPRIM
| ID: wpr-738617
Responsible library:
WPRO
ABSTRACT
PURPOSE:
To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASESUMMARY:
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
全文:
1
索引:
WPRIM
主要主题:
Ophthalmic Solutions
/
Skin
/
Xeroderma Pigmentosum
/
Carcinoma, Basosquamous
/
Visual Acuity
/
Polymerase Chain Reaction
/
Follow-Up Studies
/
Limbus Corneae
/
Simplexvirus
/
Cornea
研究类型:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
限制:
Adult
/
Female
/
Humans
国家/地区名称主题:
Asia
语言:
Ko
期刊:
Journal of the Korean Ophthalmological Society
年:
2019
类型:
Article