A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum

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.

Comparison of Efficacy and Sensation of Instillation between 0.05% Cyclosporine Nanoemulsion and Microemulsion Type

PURPOSE: To evaluate and compare the efficacy and sensation of instillation between 0.05% cyclosporine nanoemulsion group and microemulsion group. METHODS: This is a double-blind, prospective randomized clinical trial. Patients had 2 weeks of wash-out period before the study. They were randomly assigned to either nanoemulsion group or microemulsion group and treated with each group's cyclosporine eye drop. Artificial eye drop and topical steroid were used together according to severity of dryness of cornea. We checked every patient's Break-up time (BUT), Schirmer test, Staining Score and Ocular surface disease index (OSDI) on baseline, 1 month and 3 months after. Patients also self-checked frequency of use of artificial eye drop and topical steroid. Sensation of instillation was also checked. RESULTS: Both nanoemulsion eye-drop and microemulsion eye-drop improved BUT, Schirmer test, Staining Score and OSDI throughout 12 weeks. The nanoemulsion type reduced OSDI significantly compared to the microemulsion type. The mean frequency of use of artificial tear and topical steroid was similar in both groups. Foreign body sense score was higher in microemulsion group. CONCLUSIONS: 0.05% cyclosporine nanoemulsion type has simillar efficacy and subjectively less foreign body sensation.