Abstract

BEST DISEASE - AN UPDATED REVIEW

Vade Akash*, Aashutosh Sinwal, Ishu, Ratana Ram, Kundan and Mudit Bhardwaj

ABSTRACT

The German ophthalmologist Friedrich Best documented a family with a history of early-onset macular degeneration in 1905, which led to the designation of Best vitelliform macular dystrophy (BVD), which is also known as Best disease. The prevalence of BVMD was estimated to be 2 in 10,000 in a Swedish study and 1.5 in 100,000 in a Danish investigation. A parent with the condition has a 50% risk of passing it on to their children if they have a child with an unaffected spouse. A mutation in the VMD2 or BEST1 gene, located at chromosome 11q12-q13, is the culprit responsible for the condition. The pathophysiology of bestrophinopathies is still not fully understood. Impaired RPE functions can result from an ionic imbalance in the RPE milieu, which can be caused by mutations in the BEST1 gene. There are five stages of the best disease. The best illness has no known cure at this time. VEFG injections, either alone or in combination with photodynamic treatment (PDT), are an option for treating CNV. The formation of new blood vessels can be inhibited or stopped by the use of anti-vascular endothelial growth factor (Anti-VEGF) therapies. This can reduce the rate of their leakage and delay the onset of blindness. 

Keywords: Best vitelliform macular dystrophy, Electro-oculography, Bestrophin, choroidal neovascularization, Photodynamic treatment.