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Enhanced S-cone Syndrome, a Mini-review
Yiyi Wang1, Jessica Wong2, Jacque L Duncan2
1Herbert Wertheim School of Optometry and Vision Science, University of California, Berkeley, CA, USA. yiyiwang@berkeley.edu.
Advances in Experimental Medicine and Biology
|July 13, 2023
Summary
Enhanced S-cone Syndrome (ESCS) is a rare inherited retinal disease where rod precursors develop into S-cones due to NR2E3 gene variants. This results in night blindness and increased S-cone density, offering insights into photoreceptor development.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Enhanced S-cone Syndrome (ESCS) is an inherited retinal disease.
- It is primarily caused by variants in the NR2E3 gene.
- ESCS affects photoreceptor development, leading to a lack of rod cells and an excess of S-cones.
Conclusions:
- ESCS is characterized by a unique gain of S-cone function.
- The NR2E3 gene plays a critical role in photoreceptor fate determination.
- Studying ESCS enhances understanding of retinal development and NR2E3's function.
