Macular dystrophies are characterized by localized degeneration in the macular area that causes a loss of visual acuity. The most common pathology in this group is Stargardt’s disease or juvenile macular dystrophy, with a prevalence of 1: 10,000 individuals. Clinically it is characterized by the appearance of bronze pigment deposits in the macula. Macular dystrophies are inherited following an autosomal dominant and autosomal recessive pattern. Most cases are caused by recessive mutations in the ABCA4 gene.

DBGen’s Panel on Macular Dystrophies and Stargardt’s Disease includes the coding regions of 45 genes and more than 70 pathogenic non coding variants.