title: Novel therapeutics for Stargardt disease.
abstract: 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
  Among the promising treatment candidates include ALK-001, fenretinide, and A1120 as pharmacological agents to modulate the visual cycle, StarGenTMas 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.
authors.affiliation: Department of Ophthalmology and Visual Science, Yale School of Medicine, 40 Temple St., New Haven, CT, 06510, USA.
authors.forename: Louise J
authors.initials: LJ
authors.lastname: Lu
authors.affiliation: Department of Ophthalmology and Visual Science, Yale School of Medicine, 40 Temple St., New Haven, CT, 06510, USA.
authors.forename: Ji
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology and Visual Science, Yale School of Medicine, 40 Temple St., New Haven, CT, 06510, USA. ron.adelman@yale.edu.
authors.forename: Ron A
authors.initials: RA
authors.lastname: Adelman
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D017313:Fenretinide / Q000627:therapeutic use*; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D008024:Ligands; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D010880:Piperidines / Q000627:therapeutic use*; D055213:Retinal Pigment Epithelium / Q000187:drug effects / Q000473:pathology; D000080362:Stargardt Disease; D033581:Stem Cell Transplantation / Q000379:methods*
chemical_list: C540529:A1120 agent; D000970:Antineoplastic Agents; D008024:Ligands; D010880:Piperidines; D017313:Fenretinide
keywords: Gene therapy; Macular degeneration; Macular dystrophy; Pharmacologic therapy; Retinal pigment epithelium; Stargardt disease; Stem-cell transplantation