Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort.

Fifty six of 6207 patients had photographically confirmed ODD (0.9%). Drusen were predominantly bilateral (66%), with a female (62%) and Caucasian (73%) predilection. ODD prevalence in our cohort of patients with inherited retinal degenerations was 2.5%, and ODD were more prevalent in the rod-cone dystrophy subgroup at 2.95% (OR = 3.3 [2.1-5.3], P < 0.001) compared to the ophthalmic genetics cohort. Usher patients were more likely to have ODD (10/132, 7.6%, OR = 9.0 [4.3-17.7], P < 0.001) and had significantly smaller discs compared to the rest of our ODD cohort (disc area: P=0.001, DM : DD: P=0.03). Discussion. While an association between ODD and retinitis pigmentosa has been reported, this study surveys a large cohort of patients with inherited eye conditions and finds the prevalence of superficial ODD is lower than that in the literature. Some subpopulations, such as rod-cone dystrophy and Usher syndrome, had a higher prevalence than the cohort as a whole.