Figure 1.

Quantitative autofluorescence values (qAF₈) as a function of age. Dashed lines show 95% prediction interval of controls (black crosses, n = 110). Index patients (red triangles, n = 17) revealed elevated qAF₈ values compared to controls. Parents with monoallelic ABCA4 mutations (blue diamonds, n = 25) were not different compared to controls in this sample. There was no difference between parents with truncating (solid blue diamonds) or missense (open blue diamonds) monoallelic ABCA4 mutations. One parent with elevated qAF₈ values was found to carry a second independent ABCA4 mutation (black diamond).