BEST4
Description
BEST4, also known as the Bestrophin 1 gene, plays a crucial role in maintaining the health and function of the retinal pigment epithelium (RPE), a critical layer of cells that supports photoreceptor cells. Mutations in BEST4 are linked to a range of retinal diseases, including Best vitelliform macular dystrophy (BVMD) and other macular dystrophies. Understanding the role of BEST4 in retinal biology is essential for developing effective treatments for these conditions.
Associated Diseases
- Best vitelliform macular dystrophy (BVMD)
- Macular dystrophies
- Retinitis pigmentosa
- Stargardt disease
- Age-related macular degeneration (AMD)
Did you know?
BEST4 gene mutations are particularly common in populations of European descent, suggesting a possible genetic predisposition for certain retinal diseases.
