겔솔린형 격자 각막 이영양증 1예
Lattice Corneal Dystrophy, Gelsolin Type: The First Case Report in Korea
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초록
목적: 겔솔린형 격자 각막 이영양증 1예를 보고하고자 한다. 증례요약: 61세 남자 환자가 양안의 심한 건조 증상으로 내원하였다. 안과적 검사에서 나안시력은 양안 0.7이었으며, 양안 안압은 18mmHg였다. 세극등 현미경 검사에서 양쪽 각막의 점상 상피미란 및 기질 내의 다양한 깊이에서 산재된 격자선들이 관찰되었다. 피부이완증과 얼굴근육 약화 소견과 같은 특징적인 얼굴 모습이 관찰되었다. 피부는 얇고 밀랍 같았으며 저작 근육의 용적이 감소되어있었고 눈감기 근육이 약화되어 있었다. DNA 분석결과 겔솔린 유전자 변이가 관찰되었다. 결론: 이 논문에 실린 증례는 대한민국에서 처음 보고하는 겔솔린형 격자 각막 이영양증 환자이다. 안과적인 증상이 이환 초기에 나타나는 증상으로 질병의 발견과 전신적인 침범 여부에 대한 정밀 검사를 위해 안과의사의 역할이 중요하다.
Abstract
Purpose: To report the first case of lattice corneal dystrophy, gelsolin type in Korea. Case summary: A 61-year-old man visited our clinic with severe dry eye symptom in both eyes. Clinical examination revealed in both eyes a visual acuity of 0.7 without correction and intraocular pressure of 18 mm Hg. On slit-lamp examination,both corneas had scattered lattice lines at various depths within the stroma with punctate epithelial erosions. The patient had characteristic features of Meretoja syndrome, including cranial neuropathy characterized by dermatochalasis and facial weakness, and was positive for the gelsolin mutation according to DNA analysis. This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea. Conclusions: This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea and demonstrates the importance of recognizing the systemic and ophthalmic features for appropriate management of the condition.
참고문헌 (19)
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