Lori Woods, COMT
EVMS School of Health Professions
What is Best Disease?
In 1905, a German ophthalmologist named Dr. Franz Best described the first case of what we now know as Best disease or vitelliform macular dystrophy as it is also termed. (Altaweel, 2010). This paper will provide insight into this historically rare congenital disease. The various stages of the disease will be discussed alongside expected visual acuities. Diagnostic tests and treatment modalities will be presented in order to give a broad, yet thorough, overview of the disease process.
Let us begin with an overview.
Best disease is an autosomal dominant disorder. According to the U.S. National Library of Medicine, “a single abnormal gene on one of the first 22 non-sex chromosomes from either parent can cause an autosomal disorder.” This means that you only need to get the abnormal gene from one parent in order to inherit the disease. Best typically affects individuals of European, African, and Hispanic ancestry. There is no gender preference. Usual age of onset is between 3 and 15 years of age with the
average being age 6 (Altaweel, 2010). Often the disease is not detected until its later stages because visual acuity may remain normal for years. When visual acuity begins to decline, there are usually changes in the retinal pigment epithelium (RPE).