Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy.

First reported by Bietti in 1937(Bietti,1937),Bietti crystalline cor-neoretinal dystrophy(BCD,OMIM 210370)is a rare,autosomal recessively inherited progressive retinal disease.The disease is more common in Asian populations,particularly in Chinese and Jap-anese(Li et al.,2004).The prevalence of BCD is estimated at 1 in 67,000,representing around only 21,000 individuals in China(Ng et al.,2016).CYP4V2 was identified as the disease-causing gene in 2004.It encodes a member of the cytochrome P450 family 4,which is involved in fatty acid metabolism(Li et al.,2004).Although the pathogenesis of BCD is very complex and has not been fully eluci-dated,previous studies suggested that BCD pathology may be closely connected to dysregulated lipid metabolism(Lee et al.,2001;Lai et al.,2010;Hata et al.,2018;Qu et al.,2020;Zhang et al.,2020).Expression of CYP4V2 was observed in most human tis-sues,such as the heart,brain,placenta,lung,liver,skeletal muscle,kidney,pancreas,retina,and lymphocytes(Li et al.,2004).Therefore,a systems interrogation into lipid metabolic alterations based on serum can help to better understand the systemic pathology caused by CYP4V2 gene defect.