The Juvenile Macular Degenerations

• Perhaps the second most common hereditary dystrophy affecting the macula in young patients is Best vitelliform macular dystrophy or Best disease.
• Stargardt disease (RR # 14) is considered the most common of the juvenile maculopathies, is nearly always transmitted as an autosomal recessive disorder and is easily differentiated from Best disease by its clinical presentation.
• Best disease is an autosomal dominant disorder with variable penetrance and can sometimes be detected prior to visual symptoms (and reduction of visual acuity) by the presence of a so called, “sunny side up egg” appearance in the macula.
• When the “egg scrambles”, the photoreceptors are disrupted and the visual acuity is adversely affected.
• Recently, treatment of active Best disease (which is often characterized by choroidal neovascularization) with intravitreal injections of anti-VEGF drugs has been considered.1,2
• In the series to follow, the first patient presented with reduced acuity at age six and was treated with Avastin and visual acuity improved from 20/200 to 20/30.