UCL Institute of Ophthalmology


Bestrophin1 – The Gene Behind Bestrophinopathies

Bestrophinopathies are caused by mutations in the BEST1 gene, which contains the instructions to make the Bestrophin-1 (BEST1) protein. The BEST1 protein is produced exclusively in the RPE cells of the eye. Click below to learn more about the BEST1 gene and its protein product.
DNA Double Helix

Bestrophin-1 - The Gene

Learn more about the BEST1 gene.

Left: Closed BEST1 channel. Right: Open BEST1 channel with calcium ion bound.

Bestrophin-1 - The Protein

Learn more about the protein which BEST1 codes for.

Schematic of a degrading retina.

How do bestrophinopathies affect the retina?

What goes wrong in bestrophinopathies?