The gene responsible, called VMD2, has been mapped, cloned and sequenced. The protein encoded by the gene has been named bestrophin, but its function is unknown. Using recombinant DNA techniques the protein was produced in quantities adequate for raising antibody proteins in mice. The antibodies were used to determine the location of bestrophin. Some mutations in VMD2 are associated with early, childhood onset of symptoms, while other mutations are associated with onset in adulthood.
Symptoms typically arise during the fourth or fifth decade of life.
Doyne's disease has an autosomal dominant pattern of inheritance. The responsible gene has been mapped, cloned and sequenced. Consequently, malattia levintinese is now thought to be a variant of Doyne's disease. Sorsby's fundus dystrophy Symptoms of Sorsby's disease typically arise during middle age. RPE cells die and neovascularization may occur.