Colour Vision in Stargardt Disease

Area of Science:

• Ophthalmology
• Genetics
• Visual Neuroscience

Background:

• Stargardt disease (STD) is a common inherited macular dystrophy.
• Acquired colour vision deficiencies (CVDs) are known in STD but require further characterization.
• Understanding CVDs in STD can aid diagnosis and management.

Purpose of the Study:

• To investigate the type and severity of acquired CVDs in molecularly proven STD.
• To determine the relationship between best-corrected visual acuity (BCVA), full-field electroretinography (ffERG), and CVD severity in STD.
• To assess the diagnostic utility of specific CVDs in STD.

Main Methods:

• Retrospective, cross-sectional study of 73 patients with molecularly proven STD.
• Extensive colour vision evaluation using pseudo-isochromatic and arrangement tests.
• Nagel anomaloscopy performed on 13 patients.

Main Results:

• 20% of patients had normal colour vision.
• Red-green (R/G) CVDs increased as BCVA declined; deutan types were most common, followed by protan types.
• Blue-yellow CVDs affected ~25% of patients; pseudoprotanomaly noted in 10/13 patients.
• Severe CVDs correlated with low BCVA and/or long-standing disease; no significant difference in ffERG results based on CVD presence.

Conclusions:

• CVD type and severity in STD correlate better with BCVA than ffERG.
• Specific CVDs may assist in diagnosing STD.
• A comprehensive battery of colour vision tests is essential for evaluating CVDs in STD.