Age-related Macular Degeneration patient deep phenotyping and whole genome sequencing analysis identifies coding variants linking small low-luminance visual deficit to fat storage defects
Sehyun Kim, Amy Stockwell, Han Qin, Simon S. Gao, Meredith S. Sagolla, Ivaylo Stoilov, Arthur Wüster, Phillip Lai, Brian L. Yaspan, Marion Jeanne
The paper identifies coding variants in the CIDEC gene associated with small low-luminance visual deficit in AMD patients, showing an indirect effect on fat storage and lipid droplet fusion.
bioRxiv · Jun 22, 2022 · PreprintGenetics