Zemsky Christine J, Sherman Suzanne W, Schubert Hermann D, Suh Leejee H
Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York *
Optom Vis Sci. 2019 Feb;96(2):137-141. doi: 10.1097/OPX.0000000000001329.
Given that there are few reported cases of lecithin:cholesterol acyltransferase (LCAT) deficiency, recognition of the condition with proper management is notable. Long-term follow-up and contact lens fitting after penetrating keratoplasty provide best possible outcomes.
The purpose of this study was to report a case of LCAT deficiency successfully treated with penetrating keratoplasty and longer-term follow-up with contact lens fitting.
A 43-year-old white woman of Italian descent presented with corneal clouding and trouble with night vision. The patient had a history of LCAT deficiency, irritable bowel syndrome, gastroesophageal reflux disease, osteoporosis, and hemolytic anemia. Slit-lamp examination demonstrated corneal haze throughout the corneal layers. The corneas had normal pachymetry. Given the opacity of each cornea (right greater than left) and decreased night vision, penetrating keratoplasty was performed on the right eye. At post-operative month 16, the corneal graft remained clear. The patient was able to achieve a best-corrected visual acuity of 20/30+ with a scleral lens.
Penetrating keratoplasty may be necessary to provide better quality of vision in LCAT deficiency patients, specifically to enhance one's contrast sensitivity, despite relatively good Snellen visual acuity.
鉴于报道的卵磷脂胆固醇酰基转移酶（LCAT）缺乏症病例较少，识别该病症并进行妥善管理值得关注。穿透性角膜移植术后的长期随访和隐形眼镜验配可提供最佳治疗效果。
本研究旨在报告一例经穿透性角膜移植术成功治疗且进行了长期随访及隐形眼镜验配的LCAT缺乏症病例。
一名43岁有意大利血统的白人女性因角膜混浊和夜间视力问题就诊。该患者有LCAT缺乏症、肠易激综合征、胃食管反流病、骨质疏松症和溶血性贫血病史。裂隙灯检查显示角膜各层均有角膜混浊。角膜厚度测量正常。鉴于每只角膜的混浊情况（右眼重于左眼）及夜间视力下降，对右眼实施了穿透性角膜移植术。术后16个月，角膜移植片保持透明。患者佩戴巩膜镜后最佳矫正视力达到20/30+。
对于LCAT缺乏症患者，尽管Snellen视力相对较好，但穿透性角膜移植术对于提高视力质量、特别是增强对比敏感度可能是必要的。
