Quantitative phenotyping of chromatic dysfunction in best macular dystrophy

Objectives: To quantify chromatic dysfunction in Best disease to reassess the classic categorization of macular chromatic damage and to investigate psychophysical and clinical correlations. Methods: Color-contrast discrimination was measured using 2 different psychophysical strategies in age-matched control (n=41) and patient (n=34) eyes. The first strategy measured performance along 3 main confusion lines (testing cone function), and the second evaluated discrimination ellipses (modified Cambridge Color Test). The main outcome measures were chromatic discrimination variables (confusion line length, ellipse length, angle, and axis ratio) and visual acuity (VA). Results: Significant loss of performance was seen in all color axes in our patients, and it increased monotonically with staging, becoming significant in Fishman stages 2 and 3. The classically assumed preferential type I red-green deficit was true only for stage 4. Substantial chromatic dysfunction occurred even with relatively preserved VA despite that negative correlations between all test variables and VA reached statistical significance. Partial correlation analysis showed that protan/deutan loss was related to VA independent of tritan loss. Statistically significant positive correlations were also found between lesion size and chromatic dysfunction. Conclusions: Chromatic discrimination is often impaired in Best disease, even when VA is still spared. Our quantitative psychophysical approach shows that the classic categorization as a type I red-green deficit is valid only for disease stage 4.