겔솔린형 격자 각막 이영양증 1예

• 영문명: Lattice Corneal Dystrophy, Gelsolin Type: The First Case Report in Korea
• 발행기관: 대한안과학회
• 저자명: 김태협 배지현 임동희 정의상 정태영,Tae Hyup Kim, MD, Ji Hyun Bae, MD, Dong Hui Lim, MD, Eui Sang Chung, MD, PhD,Tae Young Chung, MD, PhD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume54,number4, 667~670쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2013.04.30

영문 초록

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.

키워드

Amyloidosis, Gelsolin, Lattice corneal dystrophy, Meretoja syndrome