Department of Neurology, University of Rochester Medical Center, United States; Department of Neurology, Massachusetts General Hospital, United States.
Department of Neurology, Massachusetts General Hospital, United States.
Brain Dev. 2024 Nov;46(10):344-350. doi: 10.1016/j.braindev.2024.09.008. Epub 2024 Oct 12.
Cerebral adrenoleukodystrophy (CALD) can cause visual impairment, but early symptoms are often missed or misdiagnosed. The framework of cerebral visual impairment (CVI) distinguishes deficits in sensory detection ("lower order") from those of perception and interpretation ("higher order"). This study describes visual deficits in patients with CALD and higher order visual function assessed with a virtual reality (VR) interface combined with eye tracking.
A retrospective medical record review assessed the prevalence of visual deficits in patients with CALD, as well as lesion burden on brain MRI using the Loes MRI severity score. A VR-based task measured visual spatial processing performance in participants with CALD and controls.
Out of 89 CALD patients, 69 % had at least one sign or symptom of visual impairment. Lower order deficits were seen in 56 % of patients, and higher order deficits were seen in 59 % of patients who underwent neuropsychological testing. Even in early stage disease (Loes MRI severity score ≤ 3), visual impairment was present in more than half of patients (58 %). On prospective VR-based assessment, the CALD group (n = 30) had impaired visual search performance (lower success rate and longer reaction time) compared with controls (n = 38). In both groups, there was a trend of worsening performance with increasing task difficulty.
Higher order visual deficits, not just impairment of visual acuity, visual fields, or oculomotor function, are common in all stages of CALD. Beyond neuropsychological testing, VR-based functional testing allows for quantitative assessment of higher order visual perceptual deficits that are relevant to everyday tasks and may serve as an important marker of neurological decline.
脑肾上腺脑白质营养不良（CALD）可导致视力损害，但早期症状常被忽视或误诊。脑视觉损伤（CVI）框架将感觉检测（“低阶”）的缺陷与感知和解释（“高阶”）的缺陷区分开来。本研究通过虚拟现实（VR）界面结合眼动追踪，描述了 CALD 患者的视觉缺陷和高阶视觉功能。
回顾性病历评估了 CALD 患者视觉缺陷的患病率，以及使用 Loes MRI 严重程度评分评估脑 MRI 上的病变负担。基于 VR 的任务测量了 CALD 患者和对照组的视觉空间处理性能。
在 89 名 CALD 患者中，69%至少有一个视觉损伤的体征或症状。56%的患者存在低阶缺陷，59%接受神经心理学测试的患者存在高阶缺陷。即使在疾病早期（Loes MRI 严重程度评分≤3），也有超过一半的患者（58%）存在视力障碍。在前瞻性基于 VR 的评估中，CALD 组（n=30）的视觉搜索表现（较低的成功率和更长的反应时间）较对照组（n=38）受损。在两个组中，随着任务难度的增加，表现均有恶化的趋势。
在 CALD 的所有阶段，高阶视觉缺陷（不仅是视力、视野或眼球运动功能受损）都很常见。除了神经心理学测试外，基于 VR 的功能测试还可以定量评估与日常任务相关的高阶视觉感知缺陷，这可能是神经功能下降的重要标志物。
