Comments and Conclusions
• Vitelliform type lesions in a young patient support a diagnosis of Best vitelliform macular dystrophy or Best disease.
• In questionable cases, Electrooculography (EOG) and genetic testing are suggested to confirm or deny the diagnosis.
• Best disease, like other disorders with choriodal neovascularization, appears to be successfully treated with anti VEGF injections as long as intervention occurs prior to significant destruction of photoreceptors.
• Since Best disease is an autosomal dominant disorder, offspring of patients with Best disease should be monitored very carefully for the development of the characteristic lesion.
• As is true in wet AMD, the earlier the treatment is initiated the better the prognosis.
• A future RR will highlight the results of fundus photography and SD OCT after anti-VGEF treatment of the 6-year-old (highlighted in case 1) whose VA improved from 20/200 to 20/30.