Colour Vision in Stargardt Disease.
OBJECTIVE
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.
Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
Tine
T
Vandenbroucke
Ronald
R
Buyl
Julie
J
De Zaeytijd
Miriam
M
Bauwens
André
A
Uvijls
Elfride
E
De Baere
Bart P
BP
Leroy
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000328:Adult; D003119:Color Perception Tests; D003117:Color Vision Defects / Q000175:diagnosis / Q000503:physiopathology*; D003430:Cross-Sectional Studies; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D046228:Microarray Analysis; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D000080362:Stargardt Disease; D014792:Visual Acuity / Q000502:physiology
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters