FBN1 유전자 돌연변이가 동반된 양안 단순 수정체탈구 1예
Bilateral Simple Ectopia Lentis Associated with FBN1 Gene Mutation
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목적: 유전자 돌연변이가 확인된 양안 단순 수정체탈구 1예를 보고하고자 한다. 증례요약: 47세 여자가 1개월 전부터 발생한 우안 안통 및 시력저하를 주소로 내원하였다. 특별한 전신이상 및 외상력은 없었으나, 수정체탈구 가족력이 있었다. 내원 시 우안 안압이 45 mmHg로 상승되었고, 현성굴절검사에서 우안 근시성변화(-6.5D)를 보였으며, 우안 수정체전방불완전탈구로 인해 우안 전방각폐쇄가 관찰되었다. 이후 우안 수정체초음파유화술 및 후방인공수정체공막고정술을 시행하였고 우안 최대교정시력은 1.0, 안압은 15 mmHg로 호전되었다. 하지만 2년 뒤 좌안 간헐적 안통 및 시력저하 소견으로 재내원하였고, 좌안 수정체전방불완전탈구가 관찰되었다. 좌안 수정체초음파유화술 및 후방인공수정체공막고정술을 시행한 뒤 좌안 간헐적안통 및 시력저하는 호전되었다. 추후 시행한 유전자 검사에서 FBN1 유전자 돌연변이가 확인되었다. 결론: 외상력이 뚜렷하지 않은 양안 수정체탈구 환자에서 전신검사 및 안과검사로 동반질환을 배제하고, 가족력을 확인해야 하며, 유전성이 의심될 경우 환자 및 가족들에게 유전자 검사를 시행하여 유전 상담 및 치료 방침 결정에 이용할 수 있다.
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.
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