Advertisement

Stargardt Disease

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Abstract

  • Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about 1:8000–10,000.

  • Age of onset is a surrogate marker: The earlier the onset, the more severe the disease course. Onset usually occurs in childhood or early adolescence, at about 10–15 years of age.

  • Vision is between about 20/70 and 20/200.

  • The fundus shows a bull’s eye pattern or beaten-bronze appearance, with or without yellowish flecks (fundus flavimaculatus).

  • Fluorescein angiography may show dark choroid in about 80% of cases.

  • On fundus autofluorescence (FAF), newer flecks appear hyperautofluorescent (hyperAF); older ones become progressively more hypoAF with time. Some flecks are surrounded by a ring of decreased AF.

  • Peripapillary sparing is one the characteristics of Stargardt disease, but this area can be involved in about 2–7% of cases. The reason for this sparing is unclear; this area may be more resilient to the deleterious effect of ABCA4 gene mutation, and there might be a more favorable RPE photoreceptor ratio, resulting in less lipofuscin build-up, in the presence of a thicker overlying peripapillary retinal nerve fiber layer.

  • Patients with Stargardt disease should avoid bright light and excessive vitamin A.

Keywords

Autosomal recessive Stargardt disease 

Suggested Reading

  1. Burke TR, Tsang SH. Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet. 2011;32:165–74.CrossRefGoogle Scholar
  2. Gelman R, Smith RT, Tsang SH. Diagnostic accuracy evaluation of visual acuity and fundus autofluorescence macular geographic atrophy area for the discrimination of Stargardt groups. Retina. 2016;36:159–601.CrossRefGoogle Scholar
  3. Greenstein VC, Nunez J, Lee W, Schuerch K, Fortune B, Tsang SH, et al. A comparison of en face optical coherence tomography and fundus autofluorescence in Stargardt disease. Invest Ophthalmol Vis Sci. 2017;58:5227–36.CrossRefGoogle Scholar
  4. Nõupuu K, Lee W, Zernant J, Tsang SH, Allikmets R. Structural and genetic assessment of the ABCA4-associated optical gap phenotype. Invest Ophthalmol Vis Sci. 2014;55:7217–26.CrossRefGoogle Scholar
  5. Tanna P, Strauss RW, Fujinami K, Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017;101:25–30.CrossRefGoogle Scholar
  6. Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, et al. Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. J Med Genet. 2017;54:404–12.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of OphthalmologyBiomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

Personalised recommendations