Pan Kristen S, FitzGibbon Edmond J, Vitale Susan, Lee Janice S, Collins Michael T, Boyce Alison M
Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
J Bone Miner Res. 2020 Nov;35(11):2199-2210. doi: 10.1002/jbmr.4129. Epub 2020 Aug 24.
Optic neuropathy (ON) is a highly disabling complication of fibrous dysplasia (FD). The optimal test for identifying and monitoring ON in FD is unknown. Optical coherence tomography (OCT) is an imaging modality that detects retinal nerve fiber layer (RNFL) thinning, a sign of optic nerve atrophy. The purpose of this study was to (i) assess the ability of OCT RNFL thickness measurements to identify ON in FD; (ii) compare the performance of RNFL thickness to computed tomography measurements; and (iii) examine changes in RNFL thickness over time to assess disease progression. A retrospective cohort study was performed to assess subjects (n = 70) who underwent neuro-ophthalmologic examination, including OCT. The diagnostic utility of RNFL thickness was determined using receiver operator characteristic (ROC) curve analysis, and the accuracy was compared with computed tomography measurements. The relationship between RNFL thickness and age was assessed cross-sectionally, using generalized estimating equation methodology, and longitudinally, using a generalized mixed model. Eleven subjects were identified with ON. RNFL thickness identified ON (area under curve = 0.997, p < 0.0001) with sensitivity and specificity of 100% and 95%, respectively, when using the diagnostic criterion of ≤71 μm. RNFL thickness outperformed computed tomography measurements of optic canal narrowing and optic nerve stretch. Subjects with ON exhibited a greater decrease in RNFL thickness with each year of age (-0.70 μm/year, p < 0.001) than subjects with normal vision (-0.16 μm/year, p < 0.05). When assessed longitudinally, subjects with normal vision demonstrated an increase in RNFL thickness until approximately age 20 years that decreased thereafter. In contrast, subjects with ON exhibited an earlier decrease in RNFL thickness during adolescence. In conclusion, RNFL thickness of ≤71 μm accurately identified ON in this population. By establishing the difference in rate of RNFL thinning in patients with and without ON, clinicians may distinguish between patients at risk for ON and intervene before irreversible damage. © 2020 American Society for Bone and Mineral Research.
视神经病变（ON）是骨纤维异常增殖症（FD）的一种严重致残并发症。目前尚不清楚用于识别和监测FD患者ON的最佳检测方法。光学相干断层扫描（OCT）是一种成像方式，可检测视网膜神经纤维层（RNFL）变薄，这是视神经萎缩的一个迹象。本研究的目的是：（i）评估OCT测量RNFL厚度识别FD患者ON的能力；（ii）比较RNFL厚度与计算机断层扫描测量的性能；（iii）检查RNFL厚度随时间的变化以评估疾病进展。我们进行了一项回顾性队列研究，以评估接受包括OCT在内的神经眼科检查的受试者（n = 70）。使用受试者工作特征（ROC）曲线分析确定RNFL厚度的诊断效用，并将准确性与计算机断层扫描测量结果进行比较。使用广义估计方程方法对RNFL厚度与年龄之间的关系进行横断面评估，并使用广义混合模型进行纵向评估。11名受试者被诊断为ON。当使用≤71μm的诊断标准时，RNFL厚度可识别ON（曲线下面积= 0.997，p < 0.0001），敏感性和特异性分别为100%和95%。RNFL厚度在检测视神经管狭窄和视神经拉伸方面优于计算机断层扫描测量。与视力正常的受试者（-0.16μm/年，p < 0.05）相比，ON患者的RNFL厚度每年下降幅度更大（-0.70μm/年，p < 0.001）。纵向评估时，视力正常的受试者在大约20岁之前RNFL厚度增加，之后下降。相比之下，ON患者在青春期RNFL厚度下降更早。总之，≤71μm的RNFL厚度可准确识别该人群中的ON。通过确定有和没有ON的患者RNFL变薄速率的差异，临床医生可以区分有ON风险的患者，并在不可逆转的损害发生之前进行干预。© 2020美国骨与矿物质研究学会。
