中国人McCune-Albright综合征的临床分析

Clinical characteristics of McCune-Albright syndrome in Chinese patients

目的探讨McCune-Albright综合征（MAS）的眼部临床特点。方法系列病例研究。分析从2008年1月至2011年6月就诊北京协和医院眼科的6例MAS患者最佳矫正视力、视野、色觉、视网膜神经纤维层厚度、视觉诱发电位、眼底、视神经管CT扫描，多科综合治疗方法及随访结果。结果6例MAS患者中男性3例，女性3例，就诊年龄在4～43岁（中位数16岁）。视神经管cT扫描发现6例（12只眼）MAS患者视神经管有不同程度的缩窄，其中全周缩窄3例（6只眼）、部分缩窄3例（6只眼），视神经管全周缩窄中有2例（3只眼）发现有视神经病变，其余9只眼均未发现有视神经病变。有4例（8只眼）MAS患者视神经被不同程度拉长。结论MAS患者视神经管有不同程度的缩窄，部分患者出现视神经病变，应当在临床上受到高度关注。

Objective To present the ophthalmological characteristics of McCune-Albright syndrome （MAS）. Methods Case series study. Best corrected visual acuity （BCVA） , visual field, color vision, retinal nerve fiber layer （RNFL） thickness, visual evoked potentials （VEP）, fundus examination, computed tomography （CT） imaging of the optic canal, follow up results of muhidisciplinary comprehensive treatments were analyzed. Results Of the 6 patients, three were male and three were female. Their age were between 4 to 43 years old （ median, 16 years old ）. Based on CT imaging of the optic canal, encasement of the optic canal was found in all 6 patients （12 eyes ）; three patients （6 eyes ） had circumferential encasement of the optic canal; the remaining 3 patients （ 6 eyes） had partial encasement of the optic canal. Two patients （3 eyes ） with circumferential encasement of the optic canal had optic neuropathy versus none in the remaining 9 eyes with circumferential or partial optic canal encasement. In addition, lengthening of the optic nerve was found in all 4 patients （ 8 eyes）. Conclusion Optic canal encasement and lengthening of the optic nerve are common in MAS patients, which is worthy of attention in clinical practice.