J Korean Ophthalmol Soc > Volume 58(10); 2017 > Article
Journal of the Korean Ophthalmological Society 2017;58(10):1199-1204.
DOI: https://doi.org/10.3341/jkos.2017.58.10.1199    Published online October 15, 2017.
Bilateral Simple Ectopia Lentis Associated with FBN1 Gene Mutation.
Seung Wan Nam, Ju Sun Song, Chang Seok Ki, Chang Won Kee
1Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ckee@skku.edu
2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
<em>FBN1</em> 유전자 돌연변이가 동반된 양안 단순 수정체탈구 1예
남승완1⋅송주선2⋅기창석2⋅기창원1
성균관대학교 의과대학 삼성서울병원 안과학교실1, 성균관대학교 의과대학 삼성서울병원 진단검사의학교실2
Correspondence:  Chang Won Kee,
Email: ckee@skku.edu
Received: 12 January 2017   • Revised: 23 February 2017   • Accepted: 26 September 2017
Abstract
PURPOSE
To report a case of bilateral simple ectopia lentis associated with FBN1 gene mutation. CASE SUMMARY: A 47-year-old women presented with a one-month history of ocular pain and decreased visual acuity of the right eye. She had a family history of crystalline lens dislocation but showed no systemic abnormality or trauma history. Intraocular pressure was 45 mmHg in the right eye, which showed a myopic shift (−6.5 D). The crystalline lens of the right eye was subluxated to the anterior chamber, and the angle was closed. Phacoemulsification with scleral fixation of the posterior chamber intraocular lens of the right eye was performed. After that, best corrected visual acuity of the right eye was 1.0, and intraocular pressure was 15 mmHg. After 2 years, she presented with intermittent ocular pain and decreased visual acuity of the left eye. The crystalline lens of the left eye was subluxated to the anterior chamber. Phacoemulsification with scleral fixation of the posterior chamber intraocular lens of the left eye was performed. After that, intermittent ocular pain and visual acuity of the left eye were improved. Genetic testing confirmed an FBN1 gene mutation in the patient. CONCLUSIONS: A bilateral ectopia lentis patient without history of definite trauma should undergo complete systemic and ophthalmic examination to rule out accompanying disease, and a detailed family history should be collected. If hereditary ectopia lentis is suspected, genetic testing of probands and their family should be performed and will be helpful for genetic counseling and ophthalmic surveillance.
Key Words: FBN1;Mutation;Simple ectopia lentis


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