Measuring abnormal intrinsic brain activities in patients with retinitis pigmentosa using amplitude of low-frequency fluctuation

Chen, Cheng, Xiang, Zhao-Yu, Xu, San-Hua, Zhong, Lei, Wu, Jia-Li, Hong, Qi, Wei, Hong, Zou, Jie, He, Liang-Qi, Kang, Min, Hu, Jin-Yu, Chen, Xu, Wang, Yi-Xin, Zhu, Xin-Yue and Shao, Yi 2025. Measuring abnormal intrinsic brain activities in patients with retinitis pigmentosa using amplitude of low-frequency fluctuation. Visual Neuroscience 42 , e021. 10.48130/vns-0025-0019

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Abstract

The targets of this study were to measure abnormal intrinsic brain activities in patients with retinitis pigmentosa (RP) using the amplitude of low-frequency fluctuation (ALFF) method, and to explore its potential neural mechanisms and clinical applications in the diagnosis of RP. A total of 20 patients with RP (12 males and eight females), and 20 healthy controls (HCs) (12 males and eight females) were recruited and were matched for sex and age. All participants finished the functional magnetic resonance imaging (fMRI) scanning. The ALFF method was applied to detect spontaneous brain activity. The receiver operating characteristic (ROC) curve was applied to distinguish RP patients from HCs. RP patients showed increased ALFF values in the left thalamus, left precuneus, left middle frontal gyrus, right middle frontal gyrus, and cerebellum, and decreased ALFF values in the caudate and lingual gyrus when compared with HCs. The ROC curve was used to evaluate the accuracy of using the ALFF mean in the above brain regions to distinguish RP and HC, and the results showed high accuracy. The area under the ROC curve was 0.784 (p = 0.003; 95% CI: 0.636-0.933) for Cerebellum, Frontal_Mid_R 0.893 (p < 0.0001; 95% CI: 0.791−0.995), Thalamus_L 0.866 (p < 0.0001; 95% CI: 0.753−0.979), Frontal_Mid_L 0.836 (p = 0.001; 95% CI: 0.709−0.963), Precuneus_L 0.872 (p < 0.0001; 95% CI: 0.755−0.989). The area under the ROC curve was 0.869 (p < 0.0001; 95% CI: 0.743−0.995) for Caudate_L, Lingual_L 0.824 (p = 0.001; 95% CI: 0.676−0.973). The RP patients exhibited abnormal spontaneous brain activity in vision and vision-related brain regions, which provides important information that demonstrates the underlying neural mechanisms of RP and indicates that the changes in ALFF values in the above brain regions may become one of the criteria used to assist in the diagnosis of RP.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Schools > Optometry and Vision Sciences
Publisher:	Cambridge University Press
ISSN:	1469-8714
Date of First Compliant Deposit:	10 November 2025
Date of Acceptance:	4 August 2025
Last Modified:	10 Nov 2025 14:30
URI:	https://orca.cardiff.ac.uk/id/eprint/182254

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