Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort

Figure 2

Optic disc parameters among the inherited retinal degeneration cohort. (a) Schematic diagram of optic disc parameters; black “x” indicates fovea centralis, taken as the macula, the navy line represents temporal edge of disc-to-macula distance, the white line indicates horizontal disc diameter, the magenta line indicates vertical disc diameter, and green circumference highlights optic disc area. Disc-to-macula distance (DM) was defined as the distance from the center of the disc to the macula, and disc diameter (DD) was defined as the average of the horizontal and vertical disc diameter. (b) Color fundus image of a patient with optic disc drusen (ODD) and retinitis pigmentosa, with measurements corresponding to schematic diagram in (a). (c) Fundus autofluorescence of the same patient with ODD and retinitis pigmentosa. Drusen are visualized as hyperautofluorescent areas on the optic disc. Box plots of (d) optic disc area and (e) DM : DD among each cohort and subgroup, with each individual data point representing one scored image. Patients with ODD and Usher syndrome had significantly smaller disc area and DM : DD than patients with ODD without Usher syndrome. .