中文摘要：

目的总结常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（CADASIL）的眼底动脉改变规律，探讨其与临床表现以及头颅MRI改变的关系。方法7个家系的16例患者（男4例，女12例）经过我院病理和基因检查证实为CADASIL，平均年龄（43．4±8．1）岁，平均病程（4．7±3．4）年。对所有患者进行简易精神状态量表（MMSE）评分、改良Rankin评分、眼底动脉检查和头颅MRI检查，把眼底动脉狭窄程度分为0～Ⅲ级，对头颅MRI改变进行Coulthard评分。计算患者眼底动脉狭窄分级与头颅MRI评分、MMSE、改良Rankin评分以及年龄的相关系数。选择16名健康人（在性别、年龄、视力等方面匹配）作为对照进行眼底血管检查。结果16例患者中15例出现眼底动脉狭窄，其中4例存在轻度动脉．静脉交叉压迫。出现0级、Ⅰ级、Ⅱ级和Ⅲ级眼底动脉狭窄的患者分别为1例、4例、7例和4例，相应头颅MRI的Couhhard评分平均分按眼底动脉狭窄程度从0到Ⅲ级分别为6．0、19．0、25．1和29．8分。眼底动脉狭窄分级和头颅MRI的Couhhard评分、MMSE、改良Rankin评分、年龄的相关系数分别为0．743（P〈0．001）、-0．429（P〈0．05）、0．437（P〉0．05）和0．299（P〉0．05）。对照组有2例出现Ⅰ级眼底动脉狭窄。结论眼底动脉狭窄是CADASIL常见的视网膜改变；眼底动脉狭窄和头颅MRI改变以及痴呆可能有一定的统计学相关性。

英文摘要：

Objective To assess retinal arteriole stenosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） and to evaluate the relationship between retinal arteriole stenosis with cranial MRI changes and clinical features. Methods Sixteen CADASIL patients （ mean age was （43.4 ± 8. 1 ） years, mean duration was （4. 7 ± 3.4） years） and sixteen age matched healthy individuals were enrolled. Mini-Mental State Examination （MMSE） and modified Rankin scale scoring were performed in 16 patients. Cranial MRI with Coulthard scores was assessed on CADASIL patients as well. Retinal examinations for arteriole stenosis were done for each subject. Bivariate correlations （Kendall＇ s tau-b） were used to assess the relationship among the grade of retinal stenosis, MMSE, modified Rankin scale, cranial MRI with Coulthard scores and age. Results Retinal arteriole stenosis presented in 15 cases, in whom 4 cases showed mild arterio-venous nicking, while it only presented in 2 controls. Grade 0, Ⅰ , Ⅱ and Ⅲ of retinal arteriole stenosis are noted in 1/16, 4/16, 7/16 and 4/16 cases respectively. Coulthard scores of cerebral MRI were 6. 0, 19. 0, 25.1 and 29. 8 respectively from Grade 0 to Ⅲ of retinal arteriole stenosis. The correlation coefficient of retinal arteriole stenosis and cranial MRI scores was 0. 743 （ P 〈 0. 001 ）, MMSE - 0. 429 （ P 〈 0.05 ） , modified Rankin scale 0. 437 （ P 〉 0. 05）, and age 0. 299 （ P 〉 0. 05）. Conclusion Retinal arteriole stenosis is significantly correlated with lesion in cranial MRI and dementia.