Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.
Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.
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DOI：
10.1212/wnl.0000000000005950
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发表时间：
2018-08-07
期刊：
影响因子：
9.9
通讯作者：
Gottlob I
中科院分区：
文献类型：
--
作者：
Papageorgiou E;Pilat A;Proudlock F;Lee H;Purohit R;Sheth V;Vasudevan P;Gottlob I
目的：观察小头畸形患者视网膜和视神经的形态学改变。这是一项前瞻性病例对照研究，包括27例小头畸形患者和27例健康对照。所有参与者都接受了眼科检查和黄斑和ON头部的手持式光学相干断层扫描（OCT）。在中央凹中心和旁视区（距中央凹鼻侧和颞侧1，000 μm）对单个视网膜层的厚度进行定量。对于ON股骨头，测量了椎间盘直径、杯直径、杯盘比、杯深度、水平边缘直径、边缘面积、视乳头周围视网膜厚度和视网膜神经纤维层厚度。78%的患者有眼科异常，主要是眼球震颤（56%）和斜视（52%）。在85%的患者中发现OCT异常。OCT显示椭圆体区破裂，视网膜内层持续存在，以及不规则的中央凹小凹。与对照组相比，小头畸形患者的视网膜旁视网膜厚度在鼻侧（307 ± 44 vs 342 ± 19 μm，p = 0.001）和颞侧（279 ± 56 vs 325 ± 16 μm，p < 0.001）显著降低。小头畸形的神经节细胞层和光感受器内节变薄。与对照组相比，小头畸形患者的颞侧（275 vs 318 μm，p < 0.001）和鼻侧（239 vs 268 μm，p = 0.013）的总视乳头周围视网膜厚度较小。小头畸形患者的视网膜和ON异常可能反映了神经源性有丝分裂受损导致的视网膜细胞减少和分层改变。OCT可以诊断和量化头小畸形的视网膜和ON变化，即使它们在检眼镜上没有检测到。
To investigate the morphology of the retina and optic nerve (ON) in microcephaly. This was a prospective case-control study including 27 patients with microcephaly and 27 healthy controls. All participants underwent ophthalmologic examination and handheld optical coherence tomography (OCT) of the macula and ON head. The thickness of individual retinal layers was quantified at the foveal center and the parafovea (1,000 μm nasal and temporal to the fovea). For the ON head, disc diameter, cup diameter, cup-to-disc ratio, cup depth, horizontal rim diameter, rim area, peripapillary retinal thickness, and retinal nerve fiber layer thickness were measured. Seventy-eight percent of patients had ophthalmologic abnormalities, mainly nystagmus (56%) and strabismus (52%). OCT abnormalities were found in 85% of patients. OCT revealed disruption of the ellipsoid zone, persistent inner retinal layers, and irregular foveal pits. Parafoveal retinal thickness was significantly reduced in patients with microcephaly compared to controls, nasally (307 ± 44 vs 342 ± 19 μm, p = 0.001) and temporally (279 ± 56 vs 325 ± 16 μm, p < 0.001). There was thinning of the ganglion cell layer and the inner segments of the photoreceptors in microcephaly. Total peripapillary retinal thickness was smaller in patients with microcephaly compared to controls for both temporal (275 vs 318 μm, p < 0.001) and nasal sides (239 vs 268 μm, p = 0.013). Retinal and ON anomalies in microcephaly likely reflect retinal cell reduction and lamination alteration due to impaired neurogenic mitosis. OCT allows diagnosis and quantification of retinal and ON changes in microcephaly even if they are not detected on ophthalmoscopy.