Colour Vision in Stargardt Disease

Ophthalmic Res. 2015;54(4):181-94. doi: 10.1159/000438906. Epub 2015 Oct 23.

Abstract

Purpose: To investigate the type and severity of acquired colour vision deficiencies (CVDs) in molecularly proven Stargardt disease (STD) and to establish whether a relationship exists between best-corrected visual acuity (BCVA) and full-field electroretinography (ffERG), and the degree of CVD.

Methods: A retrospective, cross-sectional study of 73 patients with a molecularly proven diagnosis of STD, who underwent extensive colour vision evaluation, using pseudo-isochromatic and arrangement tests. Thirteen patients underwent Nagel anomaloscopy.

Results: Normal colour vision was found in almost 20% of patients. Red/green (R/G) CVDs increased as BCVA declined. About 45% of all R/G CVDs were of the deutan type, although protan type CVDs became progressively apparent when moving from the high to the low BCVA group. An additional blue/yellow CVD was noted in about 25% of patients. In 10/13 patients, a pseudoprotanomaly was noted on anomaloscopy. Severe CVDs leading to scotopization were noted in patients with low BCVA and/or long-standing disease. No statistically significant differences in ERG results were found between groups with or without a CVD.

Conclusions: The degree and type of colour vision deficiency in STD patients correlate better with BCVA than with ffERG results. The presence of specific CVDs may help to establish a diagnosis of STD. A battery of colour vision tests is required to properly evaluate CVDs in STD.

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Adult
  • Color Perception Tests
  • Color Vision Defects / diagnosis
  • Color Vision Defects / physiopathology*
  • Cross-Sectional Studies
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Humans
  • Macular Degeneration / congenital*
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Macular Degeneration / physiopathology
  • Male
  • Microarray Analysis
  • Middle Aged
  • Mutation
  • Retrospective Studies
  • Stargardt Disease
  • Visual Acuity / physiology

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Stargardt disease 1