Abstract
Materials and Methods Electronic medical records of patients evaluated in the Ophthalmic Genetics clinic at the National Eye Institute (NEI) between 2008 and 2018 were searched for a superficial ODD diagnosis. Color fundus and autofluorescence images were reviewed to confirm ODD, supplemented with optical coherence tomography (OCT) in uncertain cases when available. Demographic information, examination, and genetic testing were reviewed. Disc areas and disc-to-macula distance to disc diameter ratios (DM : DD) were calculated. Results 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.
Highlights
Optic disc drusen (ODD) are acellular deposits of calcified, proteinaceous material that are often found incidentally during ophthalmic examination and further confirmed with ancillary testing [1], including B-scan ultrasonography, fundus autofluorescence (FAF), and optical coherence tomography (OCT) [2]
In the overall ophthalmic genetics cohort (N 6207), 116 individuals were identified as having possible ODD based on electronic medical records (EMR) search
For the Usher syndrome cohort, all ophthalmic imaging was reviewed, and 5 additional patients with ODD were identified for a total of 56 patients with ODD in our ophthalmic genetics cohort (0.9%)
Summary
Optic disc drusen (ODD) are acellular deposits of calcified, proteinaceous material that are often found incidentally during ophthalmic examination and further confirmed with ancillary testing [1], including B-scan ultrasonography, fundus autofluorescence (FAF), and optical coherence tomography (OCT) [2]. Previous studies report an ODD prevalence ranging from 0.3 to 2.4% in the general population, occurring bilaterally in 75% of the cases [3]. E number and size of drusen are variable, and their location can be superficial or buried within the optic nerve head. While patients with ODD are asymptomatic, enlargement or anterior migration of ODD can lead to thinning of the retinal nerve fiber layer and visual field defects. Additional complications include retinal vascular occlusions, choroidal neovascular membranes, and ischemic optic neuropathy [6]
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