분자유전검사로 확진된 한국인 고셔병 환자의 눈 이상

• 영문명: Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease
• 발행기관: 대한안과학회
• 저자명: 이상문 김현주 정선용 황정민,Sangmoon Lee, MD, Hyon J. Kim, MD, Seon-Yong Jeong, PhD, Jeong-Min Hwang, MD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume54,number1, 131~135쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2013.01.15

영문 초록

Methods: Clinical records of 5 patients who were referred to the pediatric ophthalmology clinic of Seoul National University Bundang Hospital after diagnosis of Gaucher disease at the genetics clinic of Ajou University Hospital between 2007 and 2008 were retrospectively reviewed. Results: Five patients with type 3 Gaucher disease had hepatosplenomegaly and oculomotor apraxia, and 4 patients had growth and developmental delay. The most commonly detected genetic mutation was L444P. In addition, P201H, F2131, R257Q, and D315E+Rec 1b were identified. Five patients had oculomotor apraxia and limitation of abduction, and 4 patients had esotropia. One of the 4 patients who showed combined limitation of abduction, oculomotor apraxia, and esotropia, yet did not have growth and developmental delay. Conclusions: Most of the patients who were referred for ocular motor abnormalities with Gaucher disease showed a limitation of abduction, oculomotor apraxia, and esotropia. In patients with a limitation of abduction, oculomotor apraxia, and esotropia, Gaucher disease should be considered. Ophthalmologic examination is essential for subtyping and prognosing Gaucher disease.

키워드

Esotropia, Gaucher disease, Lysosomal storage disease, Neuropathy, Oculomotor apraxia