분자유전검사로 확진된 한국인 고셔병 환자의 눈 이상
Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease
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목적: 한국인에서의 고셔병 환자의 눈 이상에 대하여 알아보고자 하였다. 대상과 방법: 2007년부터 2008년까지 아주대학교병원 유전학 클리닉에서 고셔병으로 확진한 후 분당서울대학교병원 안과로 의뢰한고셔병 환자 5명의 의무기록을 후향적으로 조사하였다. 결과: 5명의 3형 고셔병 환자 모두에서 간비장비대, 눈돌림실행증이 있었으며 4명의 환자에서 성장발육과 발달지연이 있었다. 유전자형은 L444P가 가장 흔하였으며, 그밖에 P201H, F2131, R257Q, D315E+Rec 1b가 발견되었다. 5명 모두에서 외전장애와 눈돌림실행증이 있었고 이중 4명에서 내사시가 관찰되었다. 외전장애, 눈돌림실행증 및 내사시가 모두 있는 4명 중 3명에서는 성장발육지연 및발달지연이 있었다. 결론: 의뢰된 고셔병 환자의 대부분에서 외전장애, 눈돌림실행증과 내사시를 보였다. 외전장애, 눈돌림실행증 및 내사시를 보이는 경우고셔병을 확인할 필요가 있겠으며, 고셔병의 임상 유형 및 예후를 결정하는데 안과검진이 필수적이다.
Abstract
Purpose: To investigate the ophthalmologic manifestations of Korean patients with Gaucher disease. 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.
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