Cheng Jamie, Paracha Saba S, Agrawal Saumya, Wu Zhenquan, Sung Ching-Hwa
The Warren Alpert Medical School of Brown University, Providence, RI, USA.
Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, New York, NY, USA.
Eye Brain. 2025 Jun 14;17:49-67. doi: 10.2147/EB.S516393. eCollection 2025.
The visual system is an integral part of the central nervous system, and visual symptoms often serve as an early manifestation of underlying neurological pathologies. This review synthesizes recent findings on visual dysfunction in various neurodevelopmental and neurodegenerative diseases. These reports emphasize that ophthalmological symptoms are increasingly recognized as part of a broader spectrum of neurological conditions, enhancing their clinical relevance for differential diagnosis and symptom management. Non-invasive, high-resolution ocular imaging techniques can identify retinal pathologies at the subcellular level. Additionally, the non-invasive visual functional assay, electroretinography, can further corroborate findings of retinal pathology. Distinct retinal changes are detectable in the early stages of progressive neurodegenerative diseases, such as Parkinson's disease, and are strongly correlated with cognitive decline in conditions like Huntington's disease, Alzheimer's disease, and Joubert syndrome. These findings highlight the clinical potential of retinal imaging for risk assessment, diagnosis, and monitoring the progression of diseases with insidious onset. Furthermore, this review emphasizes the retina's accessibility as a key component in investigating the underlying pathophysiology of neurological conditions. Additional clinical and basic science research is needed to better understand the distinct and potentially interconnected contributions of the brain and retina to specific visual symptoms. Investigating suitable preclinical mouse models will be vital for developing and refining novel ocular diagnostic markers, which are important for symptom management and the advancement of therapeutic strategies.
视觉系统是中枢神经系统的一个组成部分，视觉症状往往是潜在神经病理学的早期表现。本综述综合了各种神经发育和神经退行性疾病中视觉功能障碍的最新研究结果。这些报告强调，眼科症状越来越被认为是更广泛神经系统疾病谱的一部分，增强了它们在鉴别诊断和症状管理方面的临床相关性。非侵入性高分辨率眼部成像技术可以在亚细胞水平识别视网膜病变。此外，非侵入性视觉功能检测方法——视网膜电图，可以进一步证实视网膜病变的发现。在帕金森病等进行性神经退行性疾病的早期阶段可检测到明显的视网膜变化，并且在亨廷顿病、阿尔茨海默病和儒贝尔综合征等疾病中，这些变化与认知能力下降密切相关。这些发现突出了视网膜成像在风险评估、诊断以及监测隐匿性发病疾病进展方面的临床潜力。此外，本综述强调视网膜作为研究神经系统疾病潜在病理生理学的关键组成部分的可及性。需要更多的临床和基础科学研究，以更好地理解大脑和视网膜对特定视觉症状的独特且可能相互关联的作用。研究合适的临床前小鼠模型对于开发和完善新型眼部诊断标志物至关重要，这些标志物对于症状管理和治疗策略的推进具有重要意义。
