키드증후군의 안과 증상 및 감염각막염 치료와 경과에 대한 증례
Ocular Manifestations, Treatment Outcome and Clinical Course of Infective Keratitis of Keratitis-Ichthyosis-Deafness Syndrome
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목적: 키드증후군(The Keratitis, Ichthyosis, and Deafness syndrome) 환자에서 동반된 안과적 증상 및 감염각막염 치료 경과와 국내에서 처음 발견된 GJB2 유전자 변이에 대해 보고하고자 한다. 증례요약: 유전손발바닥각질피부증, 전신과각화, 난청으로 치료 중인 32개월 남아가 내원하였다. GJB2 유전자의 염기 서열 분석 결과, 유전자 변이가 발견되어 분자유전학적으로 키드증후군이 확진되었다. 양안 각막 윤부 360° 신생혈관화 및 결막화, 양안 중심각막혼탁이 동반되어 있었다. 양안 표층 각막절제술 및 양막이식술을 시행하였고 좌안 각막혼탁이 재발하여 베바시주맙 점안제 사용 및 전층각막이식술을 시행하였다. 전층각막이식술 후 각막실질혼탁이 진행되어, 5% 반코마이신, 5% 세프타지딤 항생제 안약을 점안하였고, 배양검사에서 Methicillin-resistant Staphylococcus aureus 배양되었다. 결론: 키드증후군환자에서 윤부줄기세포 기능부전과 감염 취약성에 대해 주의 깊게 관찰하고, 시력손상을 예방하기 위해 적극적인 항생제 안약 치료가 필요할 것으로 생각된다.
Abstract
Purpose: To report the ocular manifestations and treatment outcomes of infective keratitis in a patient with keratitis-ichthyosis- deafness (KID) syndrome and to report a newly discovered mutation in the GJB2 gene in Korea. Case summary: A 32-month-old boy was referred to the Ophthalmology Clinic for bilateral corneal opacity and glare. The patient showed alopecia, hyperkeratotic skin in both limbs, and hearing loss in both ears. Ocular examination showed loss of eyebrows and eyelashes, hyperkeratotic lesions of the eyelids, mucopurulent discharge in the eyelids, and opacity and scarring with superficial vascularization and conjunctivalization in both corneas. Molecular analysis showed a pathogenic variant in the GJB2 gene and confirmed the diagnosis of KID syndrome. Superficial keratectomy and amniotic membrane transplantation were performed in both eyes. Corneal opacity recurred in the left eye; treatment with bevacizumab eyedrops was instituted and penetrating keratoplasty was performed in the left eye. Corneal stromal opacity relapsed in the left eye; 5% vancomycin and 5% ceftazidime eyedrops were started and methicillin-resistant Staphylococcus aureus was cultured from a corneal scraping specimen. Conclusions: A careful observation of ocular manifestations in KID syndrome is needed to prevent infective keratitis and limbal cell deficiency; intensive antibiotic eyedrop treatment is recommended to prevent permanent visual impairment.
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