Adult-Onset Vitelliform Foveomacular Dystrophy (AVMD) is a rare genetic eye disorder that affects the macula, which is the central part of the retina responsible for sharp and detailed vision. AVMD usually occurs in adulthood and is characterized by the accumulation of yellowish deposits called lipofuscin in the macula, leading to progressive vision loss.
AVMD is caused by mutations in the BEST1 gene, which provides instructions for making a protein called bestrophin-1. This protein is important for the proper functioning of cells in the retina that are involved in the visual process.
The symptoms of AVMD typically develop gradually and include blurred or distorted central vision, difficulty seeing in low light, and a decrease in the ability to distinguish colors. Some people may also experience blind spots or a dark spot in the center of their vision.
There is currently no cure for AVMD, and treatment options are limited. Treatment may involve the use of low-vision aids, such as magnifying glasses, or the use of medications to slow the progression of the disease. In some cases, laser therapy or surgery may be recommended to remove the deposits in the macula.
AVMD is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one mutated copy of the BEST1 gene to develop the condition. People with a family history of AVMD may choose to undergo genetic testing and counseling to determine their risk of developing the disorder and to make informed decisions about family planning.
