Novel therapeutics for Stargardt disease

Graefes Arch Clin Exp Ophthalmol. 2017 Jun;255(6):1057-1062. doi: 10.1007/s00417-017-3619-8. Epub 2017 Mar 11.


Description of situation: Stargardt disease, an inherited macular dystrophy caused by mutations in the ABCA4 gene encoding a retinal transporter protein, is the most prevalent form of macular degeneration in children. Patients with Stargardt disease develop severe vision loss within their first or second decades of life, which progresses to irreversible decreased visual acuity in almost all cases. Presently, there are no standard treatments for Stargardt disease. However, encouraging progress has been made in the development of innovative approaches to preventing vision loss in Stargardt patients.

Objective of study: Among the promising treatment candidates include ALK-001, fenretinide, and A1120 as pharmacological agents to modulate the visual cycle, StarGenTM as a vector for supplementation of a functional ABCA4 gene, and stem-cell transplantation of hESC-RPE cells for regeneration of the retinal pigment epithelium. This study aims to systematically review and summarize evidence concerning the most up-to-date developments in pharmacologic, gene, and stem-cell therapies as novel therapeutic strategies to improve vision for patients with Stargardt disease.

Keywords: Gene therapy; Macular degeneration; Macular dystrophy; Pharmacologic therapy; Retinal pigment epithelium; Stargardt disease; Stem-cell transplantation.

Publication types

  • Review

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Fenretinide / therapeutic use*
  • Genetic Therapy / methods*
  • Humans
  • Ligands
  • Macular Degeneration / congenital*
  • Macular Degeneration / diagnosis
  • Macular Degeneration / therapy
  • Piperidines / therapeutic use*
  • Retinal Pigment Epithelium / drug effects
  • Retinal Pigment Epithelium / pathology
  • Stargardt Disease
  • Stem Cell Transplantation / methods*


  • A1120 agent
  • Antineoplastic Agents
  • Ligands
  • Piperidines
  • Fenretinide