A Genetic Eye Disorder Caused by BEST1 Gene Mutations
Best disease, also known as Vitelliform Macular Dystrophy, is a genetic eye disorder characterized by the accumulation of a yellow, egg-yolk-like lesion in the macula. This deposit of lipofuscin-like material disrupts the normal function of the retinal pigment epithelium, gradually impairing central vision.
Best disease is caused by mutations in the BEST1 gene, which encodes a protein called bestrophin-1. This protein plays a critical role in the function of the retinal pigment epithelium (RPE).
Best disease often begins in childhood. It is inherited in an autosomal dominant pattern, meaning a single copy of the mutated BEST1 gene is sufficient to cause the condition.
Our center offers Stem Cell Therapy aimed at supporting RPE health and slowing disease progression. Regular monitoring is also critical to detect complications such as abnormal blood vessel growth.
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See how stem cell therapy has helped patients with Best Disease (Vitelliform Macular Dystrophy) and related conditions — real stories from real patients.