The Role of the Choroid in Stargardt Disease

Int J Mol Sci. 2022 Jul 9;23(14):7607. doi: 10.3390/ijms23147607.

Abstract

Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease.

Keywords: Stargardt disease; choriocapillaris vascular density; choroidal thickness; choroidal vascularity index; enhanced depth imaging; fluorescein angiography; indocyanine green angiography; optical coherence tomography angiography; retinal dystrophy; spectral domain optical coherence tomography.

Publication types

  • Review

MeSH terms

  • ATP-Binding Cassette Transporters* / genetics
  • Choroid* / diagnostic imaging
  • Choroid* / physiopathology
  • Fluorescein Angiography
  • Humans
  • Retinal Pigment Epithelium* / diagnostic imaging
  • Retinal Pigment Epithelium* / physiopathology
  • Stargardt Disease* / diagnostic imaging
  • Stargardt Disease* / physiopathology
  • Tomography, Optical Coherence

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters

Grants and funding

This research received no external funding.