The diagnosis of schizophrenia usually relies on the assessment of clinical symptoms, and the search for objective biomarkers is particularly important for the diagnosis and treatment of the disease. Since the retina can reflect the state of the central nervous system, more and more studies are focusing on retina-specific alterations in neuropsychiatric disorders. This review summarizes recent studies on the retinal nerve layer, vascular characteristics, and electrophysiological features in patients with schizophrenia, showing that patients with schizophrenia often have thinner retinal ganglion cell-inner plexiform layer and retinal nerve fiber layer. The changes in the retinal layers vary in different stages of schizophrenia. Studies of the fundus vasculature in schizophrenic patients have also suggested the presence of altered retinal vascular density and microvascular morphology in schizophrenic patients. Studies of electroretinography suggest that patients in the acute phase of schizophrenia tend to exhibit reduced a-wave amplitudes of cone cells, while those at genetic high risk often show a tendency for reduced b-wave amplitudes of rod cells. However, the current retina-related studies in schizophrenia mostly focus on clinical manifestations, with fewer studies on related mechanisms and inconsistent findings. This review attempts to discuss a variety of potential pathophysiological mechanisms, including trans-synaptic retrograde degeneration hypothesis, neurotransmitter disturbance, genetics, brain structural changes, and metabolism, in the context of the retinal nerve layer, microcirculation, and electrophysiology alterations, in order to provide new insights into the pathophysiological mechanisms and objective biomarkers of schizophrenia.
XING Yuxi, CHENG Ying, CHEN Jianhua. Progress in retinal features and underlying mechanisms in schizophrenia. Journal of Shanghai Jiao Tong University (Medical Science)[J], 2025, 45(5): 639-645 doi:10.3969/j.issn.1674-8115.2025.05.013
除上述2种假说外，基因遗传层面可能也参与了精神分裂症患者视网膜神经层的改变。全基因组关联分析（Genome-Wide Association Study，GWAS）显示，精神分裂症相关的遗传变异与黄斑厚度相关的遗传变异相关联［42］。BOUDRIOT等［43］的研究使用机器学习算法识别精神分裂症的视网膜特征与脑影像学特征，将所有特征结合后生成表型-眼-脑特征模式，进行视觉系统的个体疾病模式与遗传风险的相关性分析；结果发现，视网膜改变在视觉系统特征上的个体负荷与精神分裂症患者的个体多基因风险之间存在相关性。这说明精神分裂症视网膜改变在一定程度上受到未识别的复杂多基因的遗传机制驱动。针对有精神疾病高遗传风险的儿童/青少年的ERG研究［44］显示，视杆细胞b波振幅有降低的趋势；MAZIADE等［45］的研究同样对严重精神疾病遗传高风险的后代的视网膜进行评估，发现视锥细胞b波潜伏期长短与童年时期的精神病样经历、认知功能降低和社会功能恶化向相关，而这些特征可能预示着其由高危人群向精神疾病转变的风险较高。
XING Yuxi and CHENG Ying contributed to topic selection, paper writing, and revision. CHEN Jianhua participated in topic selection and was responsible for review of the paper. All authors have read the final version of paper and consented to its submission.
利益冲突声明
所有作者声明不存在利益冲突。
COMPETING INTERESTS
All authors declare no relevant conflict of interests.
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... 除上述2种假说外，基因遗传层面可能也参与了精神分裂症患者视网膜神经层的改变.全基因组关联分析（Genome-Wide Association Study，GWAS）显示，精神分裂症相关的遗传变异与黄斑厚度相关的遗传变异相关联［42］.BOUDRIOT等［43］的研究使用机器学习算法识别精神分裂症的视网膜特征与脑影像学特征，将所有特征结合后生成表型-眼-脑特征模式，进行视觉系统的个体疾病模式与遗传风险的相关性分析；结果发现，视网膜改变在视觉系统特征上的个体负荷与精神分裂症患者的个体多基因风险之间存在相关性.这说明精神分裂症视网膜改变在一定程度上受到未识别的复杂多基因的遗传机制驱动.针对有精神疾病高遗传风险的儿童/青少年的ERG研究［44］显示，视杆细胞b波振幅有降低的趋势；MAZIADE等［45］的研究同样对严重精神疾病遗传高风险的后代的视网膜进行评估，发现视锥细胞b波潜伏期长短与童年时期的精神病样经历、认知功能降低和社会功能恶化向相关，而这些特征可能预示着其由高危人群向精神疾病转变的风险较高. ...
1
... 除上述2种假说外，基因遗传层面可能也参与了精神分裂症患者视网膜神经层的改变.全基因组关联分析（Genome-Wide Association Study，GWAS）显示，精神分裂症相关的遗传变异与黄斑厚度相关的遗传变异相关联［42］.BOUDRIOT等［43］的研究使用机器学习算法识别精神分裂症的视网膜特征与脑影像学特征，将所有特征结合后生成表型-眼-脑特征模式，进行视觉系统的个体疾病模式与遗传风险的相关性分析；结果发现，视网膜改变在视觉系统特征上的个体负荷与精神分裂症患者的个体多基因风险之间存在相关性.这说明精神分裂症视网膜改变在一定程度上受到未识别的复杂多基因的遗传机制驱动.针对有精神疾病高遗传风险的儿童/青少年的ERG研究［44］显示，视杆细胞b波振幅有降低的趋势；MAZIADE等［45］的研究同样对严重精神疾病遗传高风险的后代的视网膜进行评估，发现视锥细胞b波潜伏期长短与童年时期的精神病样经历、认知功能降低和社会功能恶化向相关，而这些特征可能预示着其由高危人群向精神疾病转变的风险较高. ...
1
... 除上述2种假说外，基因遗传层面可能也参与了精神分裂症患者视网膜神经层的改变.全基因组关联分析（Genome-Wide Association Study，GWAS）显示，精神分裂症相关的遗传变异与黄斑厚度相关的遗传变异相关联［42］.BOUDRIOT等［43］的研究使用机器学习算法识别精神分裂症的视网膜特征与脑影像学特征，将所有特征结合后生成表型-眼-脑特征模式，进行视觉系统的个体疾病模式与遗传风险的相关性分析；结果发现，视网膜改变在视觉系统特征上的个体负荷与精神分裂症患者的个体多基因风险之间存在相关性.这说明精神分裂症视网膜改变在一定程度上受到未识别的复杂多基因的遗传机制驱动.针对有精神疾病高遗传风险的儿童/青少年的ERG研究［44］显示，视杆细胞b波振幅有降低的趋势；MAZIADE等［45］的研究同样对严重精神疾病遗传高风险的后代的视网膜进行评估，发现视锥细胞b波潜伏期长短与童年时期的精神病样经历、认知功能降低和社会功能恶化向相关，而这些特征可能预示着其由高危人群向精神疾病转变的风险较高. ...
1
... 除上述2种假说外，基因遗传层面可能也参与了精神分裂症患者视网膜神经层的改变.全基因组关联分析（Genome-Wide Association Study，GWAS）显示，精神分裂症相关的遗传变异与黄斑厚度相关的遗传变异相关联［42］.BOUDRIOT等［43］的研究使用机器学习算法识别精神分裂症的视网膜特征与脑影像学特征，将所有特征结合后生成表型-眼-脑特征模式，进行视觉系统的个体疾病模式与遗传风险的相关性分析；结果发现，视网膜改变在视觉系统特征上的个体负荷与精神分裂症患者的个体多基因风险之间存在相关性.这说明精神分裂症视网膜改变在一定程度上受到未识别的复杂多基因的遗传机制驱动.针对有精神疾病高遗传风险的儿童/青少年的ERG研究［44］显示，视杆细胞b波振幅有降低的趋势；MAZIADE等［45］的研究同样对严重精神疾病遗传高风险的后代的视网膜进行评估，发现视锥细胞b波潜伏期长短与童年时期的精神病样经历、认知功能降低和社会功能恶化向相关，而这些特征可能预示着其由高危人群向精神疾病转变的风险较高. ...
