Fig. 1: Flow chart of the present study.

Metabolomic analysis using MS was performed in enrolled IRD cases and the control groups. The heatmap, PLS-DA, and volcano plots were used to reveal the difference in metabolomic profile between IRDs and the control group. By incorporating metabolomic information, a machine learning model was constructed for differentiating specific IRDs that cannot be distinguished by clinical examination. MS, mass spectrometry, IRD, inherited retinal degeneration, PLS-DA, partial least squares-discriminant analysis, BCD, Biettiās crystalline dystrophy, CRD, cone-rod dystrophy, RP, retinitis pigmentosa, STGD, Stargardt disease; LC-HR-MS/MS, liquid chromatography-high-resolution tandem mass spectrometry, ML, machine learning.