Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

ABSTRACT:

Purpose

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.

Methods

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.

Results

Here we have identified four patients with cone-rod dystrophy or maculopathy from three families carrying pathogenic varian

SUBMITTER: Bertrand RE 

PROVIDER: S-EPMC7936949 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature