The effect of light deprivation in patients with Stargardt disease

Am J Ophthalmol. 2015 May;159(5):964-72.e2. doi: 10.1016/j.ajo.2015.02.004. Epub 2015 Feb 11.

Abstract

Purpose: To investigate whether long-term protection from light exposure affects the rate of disease progression in patients with autosomal recessive Stargardt disease (STGD1), measured using fundus autofluorescence imaging.

Design: Longitudinal, retrospective, interventional case series.

Methods: Five patients with Stargardt disease protected 1 eye from light exposure by applying a black contact lens during waking hours for ≥12 months. Disease progression was followed by performing autofluorescence imaging at semi-regular intervals. Longitudinal changes in autofluorescence were studied by evaluating areas of decreased autofluorescence and areas of increased autofluorescence as a measure of retinal pigment epithelium damage and lipofuscin accumulation, respectively.

Results: We observed less progression of decreased autofluorescence in 4 out of 5 light-protected eyes relative to their respective nonprotected eyes. The progression of increased autofluorescence, on the other hand, was highly variable and did not respond consistently to treatment.

Conclusions: Areas of decreased autofluorescence may serve as a useful biomarker for measuring the progression of Stargardt disease. The reduced progression of decreased autofluorescence in the light-protected eyes suggests that light deprivation might be beneficial in patients with Stargardt disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Adolescent
  • Adult
  • Child
  • Contact Lenses*
  • Female
  • Follow-Up Studies
  • Humans
  • Light*
  • Lipofuscin / metabolism
  • Macular Degeneration / congenital*
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Macular Degeneration / physiopathology
  • Macular Degeneration / therapy
  • Male
  • Middle Aged
  • Mutation / genetics
  • Radiation Protection / instrumentation
  • Radiation Protection / methods*
  • Retinal Pigment Epithelium / pathology
  • Retrospective Studies
  • Sensory Deprivation*
  • Stargardt Disease
  • Young Adult

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • Lipofuscin

Supplementary concepts

  • Stargardt disease 1