光学相干断层扫描评估未发病的Leber遗传性视神经病变基因突变携带者的视网膜神经纤维层厚度

作     者：Savini G. Barboni P. Valentino M.L. 张少娟 

出 版 物：《世界核心医学期刊文摘（眼科学分册）》 (Digest of the World Core Medical Journals:Ophthalmology)

年 卷 期：2005年第1卷第5期

页      面：56-57页

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

主　　题：遗传性视神经病 Leber 携带者 基因突变 乳头黄斑束 主要评价指标 横断面研究 亚临床 组织病理学 亚组 

摘      要：To study retinal nerve fiber layer (RNFL) thickness by optical coherence tomog raphy (OCT) in unaffected carriers with Leber’s hereditary optic neuropathy (LH ON) mutations. Crosssectional study. Sixty-six unaffected carriers (44 females and 22 males) were analyzed and compared with an age-matched control group of 7 0 patients (40 females and 30 males). The statistical analysis was performed aft er grouping both the patients and the control group on the basis of gender and, for unaffected carriers only, mitochondrial DNA mutation. The Fast RNFL Thicknes s (3.4) scan acquisition protocol was used. Retinal nerve fiber layer thickness as measured by OCT. With respect to the control group, unaffected male carriers showed a thicker RNFL in the temporal and inferior quadrants and in the 360°ave rage measurement (P=0.025, P=0.03, and P=0.018, respectively). These differences reached statistical significance in subjects carrying the 11 778 mutation, wher eas only a trend was detected in those with the 3 460 mutation. Unaffected femal e carriers had an increased thickness in the temporal quadrant when compared wit h the control group (P=0.003) and no differences in the other measurements. The increase in temporal sectors was statistically significant in females with the 1 1 778 mutation, whereas a trend was detected in those with the 3 460 mutation. A thickening of the temporal fibers was detected in all subgroups of unaffected c arriers. This is the first evidence indicating the preferential involvement of t he papillomacular bundle in subclinical LHON. This notion previously was based o n the early loss of fibers from the temporal quadrant in acute LHON and the sele ctive loss of small-caliber fibers at histopathology. Our study also revealed t hat males have a more diffuse involvement than females.