biostudies-literatureBertrand RENEI NIH HHSNational Eye InstituteInternational Retinal Research FoundationFoundation Fighting BlindnessFight for Sight UKKnights Templar Eye FoundationNational Institute for Health Research (NIHR)National Institutes of HealthNIH HHS488-497https://www.ebi.ac.uk/biostudies/studies/S-EPMC7936949biostudies-literatureUnknown23(3)<h4>Purpose</h4>Previous studies suggest that ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. However, no pathogenic variant in ceramide synthases has been identified in human patients and knockout of various ceramide synthases in mice has not led to photoreceptor degeneration.<h4>Methods</h4>Exome sequencing was used to identify candidate disease genes in patients with vision loss as confirmed by standard evaluation methods, including electroretinography (ERG) and optical coherence tomography. The vision loss phenotype in mice was evaluated by ERG and histological analyses.<h4>Results</h4>Here we have identified four patients with cone-rod dystrophy or maculopathy from three families carrying pathogenic varianGenetics in medicine : official journal of the American College of Medical GeneticsCeramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.PMC7936949R01 EY0223561S10RR026550R01EY022356BR-GE-0613-0618-BCMP30 EY002520S10 OD023469R01 EY018571Sampaio SAMThangavel CRobson AGWebster ARPorto FBOWang JQian XBertrand RELucy Raymond FCarss KJXiong KHBa-Abbad RSimoes RTArno GChen RLiang QfalseCeramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.<h4>Purpose</h4>Previous studies suggest that ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. However, no pathogenic variant in ceramide synthases has been identified in human patients and knockout of various ceramide synthases in mice has not led to photoreceptor degeneration.<h4>Methods</h4>Exome sequencing was used to identify candidate disease genes in patients with vision loss as confirmed by standard evaluation methods, including electroretinography (ERG) and optical coherence tomography. The vision loss phenotype in mice was evaluated by ERG and histological analyses.<h4>Results</h4>Here we have identified four patients with cone-rod dystrophy or maculopathy from three families carrying pathogenic varian2021-01-01T00:00:00Z2021 Mar2026-05-02T16:46:34.771Z2022-02-09T16:00:29.972ZS-EPMC79369493307789210.1038/s41436-020-01003-x