Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease.

Lee, Sangmoon; Kim, Hyon J; Jeong, Seon Yong; Hwang, Jeong Min

doi:2013.54.1.131

J Korean Ophthalmol Soc > Volume 54(1); 2013 > Article

Original Article

Journal of the Korean Ophthalmological Society 2013;54(1):131-135.
DOI: https://doi.org/10.3341/jkos.2013.54.1.131 Published online January 15, 2013.

Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease.

Sangmoon Lee, Hyon J Kim, Seon Yong Jeong, Jeong Min Hwang

¹Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. hjm@snu.ac.kr
²Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.

분자유전검사로 확진된 한국인 고셔병 환자의 눈 이상

이상문¹⋅김현주²⋅정선용²⋅황정민¹

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital¹, Seongnam, Korea
Department of Medical Genetics, Ajou University School of Medicine², Suwon, Korea

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.

Key Words: Esotropia;Gaucher disease;Lysosomal storage disease;Neuropathy;Oculomotor apraxia