AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.

doi:10.1038/s41591-026-04545-w

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Article

AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.

Nature medicine - 1 Sept 2026

Jia Huixun, Qian Bo, Qu Yanlin, Wang Jinyuan, Chen Jieqiong, Li Tong, Zheng Changle, Han Jinu, Zhang Guanran, Jin Yixiao, Lee Seungmin, Chen Xiang, Chen Haichao, Xu Jiayu, Xu Ke, Rong Yu, Jiang Yi, Yang Yiliu, Li Wenjing, Guo Qingge, Li Ya, Li Yang, Wu Jihong, Zhang Qingjiong, Lu Fang, Zhuang Wenjuan, Lei Bo, Byeon Suk Ho, Lee Junwon, Smedowski Adrian, Swierczynska Marta, Zhang Daoqiang, Rim Tyler Hyungtaek, Grzybowski Andrzej, Sheng Bin, Wong Tien Yin, Sun Xiaodong

Abstract excerpt

The accurate and timely diagnosis of inherited retinal diseases (IRDs) represents an unmet clinical need in ophthalmology, as the current pathways rely on resource-intensive phenotyping, multidisciplinary expertise and genetic testing. Here we developed Retina4IRD, an artificial intelligence (AI)-based clinician decision support system (CDSS) that predicts 17 genotype categories from retina images. Retina4IRD...

Read the complete abstract on PubMed

Topics

Humans
Female
Retinal Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Adult

Artificial Intelligence

Decision Support Systems, Clinical

Tomography, Optical Coherence

Middle Aged

Genotype

Retina

Source

Open in PubMed

Identifiers

PMID: 42498742
DOI: 10.1038/s41591-026-04545-w

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