Comments and Follow-up

  • One hundred 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 or Dystrophy 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
  • Mutations in the ABCA4 gene can also result in AR retinitis pigmentosa (RP) and cone-rod dystrophy.3
  • Symptoms usually begin in the first 2 decades of life and VA generally stabilizes at the 20/200-20/400 range.4
  • Only 4% of patients with Stargardt have VA reduced to the 10/400 range4 – the best corrected VA of our patient. Hence, our patient not only has glaucoma but a severe form of Stargardt as well.
  • Stargardt is most often a disease localized to the macula and not a generalized retinal dystrophy like RP, and the flash ERG which reflects overall rod and cone function is typically normal.5
  • The flecks are well documented with the recent optomap® images to be quite widespread, and suggest that the condition may be more generalized than that documented with the normal ERG obtained a decade earlier.