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Jasmine Serpen, Lev Prasov, Wadih M Zein, Catherine A Cukras, Amy Turriff, Brian Patrick Brooks, Laryssa Huryn; Evaluation of Clinical Features in Patients with Optic Disc Drusen. Invest. Ophthalmol. Vis. Sci. 2019;60(9):4486.
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© ARVO (1962-2015); The Authors (2016-present)
Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc. They are often found incidentally during ophthalmic examination (presumed prevalence 0.3-2.0%) and can lead to visual field defects. While a hereditary component for ODD is suspected, their burden in inherited ocular conditions is unknown. The present study aims to evaluate the clinical features of patients with ODD in a cohort of individuals with inherited eye conditions.
Electronic medical records for patients evaluated in the Ophthalmic Genetics clinic at the National Eye Institute between 2004-2018 were reviewed for an ODD diagnosis. Topcon and Optos color and autofluorescence images were used to confirm the ODD diagnosis, supplemented with OCT in questionable cases. Records were reviewed for demographic information, visual acuity, refractive error, laterality, diagnosis, and genetic testing. Optic disc areas and disc-macula distance to disc diameter ratios (DM:DD) were calculated with Topcon software.
47 of 7410 (0.6%) ophthalmic genetics patients had confirmed ODD: 29 (61.7%) females and 18 (38.3%) males. The cohort was predominantly Caucasian (72.3%) with a mean age of 27 years (range: 5-73 years). The most common primary diagnosis of patients with ODD was retinal degeneration (74.5%). Best corrected logMAR visual acuity ranged from -0.097 to no light perception. Median refractive error was -0.75 D (range: -10.00- +13.50 D). 70.2% of our cohort had bilateral ODD, 27.7% unilateral ODD and one patient only had imaging in one eye. 91 fundus images were of adequate quality to measure disc area and DM:DD ratio. Mean disc area was 1.63 ± 0.46 mm2 OD and 1.60 ± 0.42 mm2 OS. Mean DM:DD ratio was 2.14 ± 0.37 OD and 2.17 ± 0.39 OS. There were no statistically significant differences between bilateral and unilateral patients or affected vs. unaffected eyes in refractive error or disc measurements.
An association between ODD and other ocular conditions, such as retinitis pigmentosa, has been previously reported. In this study of patients with inherited eye conditions, we found similar demographic patterns as compared to the general population, though smaller discs were noted in our cohort. Known complications of ODD include visual field defects, and less commonly retinal vascular occlusions and choroidal neovascular membrane; therefore, it is important to further our knowledge of ODD in inherited eye disease.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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