The Genetics of Bestrophinopathies

Bestrophinopathies are genetically inherited diseases caused by mutations in the BEST1 gene.

Bestrophinopathies are inherited forms of macular degeneration that affect central vision. Bestrophinopathies are caused by problems within our genes, more specifically, by mutations within in a gene known as Bestrophin1 (BEST1). Recent research has found that mutations in the BEST1 gene are the 5th most common cause of inherited retinal disease, accounting for 4% of molecularly diagnosed cases.

Bestrophinopathies can be inherited in various ways, the disease could be dominant or recessive. There are also cases where Bestrophinopathies haven’t previously run in the family, these can be caused by de novo (new) mutations. Sequencing of the BEST1 gene in the patient’s family can help to identify the specific gene mutation, confirm the disease and reveal the how the gene has been inherited.

Click on the images below to learn about the basics of genetics and the different modes of inheritance.

Understanding Genetics

Find out more about the basics of genetics.

Image of a chromosome with one normal copy of a gene and another defective copy.

Dominant Disease

Find out about the dominant mode of inheritance.

Image of a chromosome with two defective copies of a gene.

Recessive Disease

Find out about the recessive mode of inheritance.

Image of a string of DNA with a single defective nucleotide.

When Bestrophinopathies don’t run in your family

Find out about De novo mutations.

References:

Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S et al. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Ophthalmology. 2020;.