Stargardt’s Disease

• Over 100 years ago, Karl Stargardt described for the first time the features of what is now known to be the most common juvenile macula dystrophy.1
• Stargardt’s Disease (SD) with or without the white-yellow deep retinal lesions or the so-called flecks of Fundus Flavimaculatus2, is inherited as an autosomal recessive (AR) trait that is due to mutations in ABCA4 gene.3
• Symptoms usually begin in the first 2 decades of life and VA generally stabilizes at the 20/200-20/400 range.4
• Both SD OCT and fundus autofluorescence (AF) now allow for earlier detection of SD and potentially earlier intervention.
• Here we present what we believe is the earliest abnormality in SD: a thickened, irregular hyper-reflective external limiting membrane (ELM), which is likely due to degeneration of the outer nuclear layer.
• AF also reveals changes prior to ophthalmoscopy.