What causes Bestrophinopathies?

Mutations in the Bestrophin1 (BEST1) gene cause Bestrophinopathies.

Schematic of the BEST1 gene located on chromosome 11q13

Bestrophin-1 - The Gene Behind Bestrophinopathies

Find out more about the BEST1 gene.

Schematic of different types of mutation.

Genetics of Bestrophinopathies

Find out about the genetics behind inherited disease.