Drusen and the misleading optic disc

Arbabi, Esmaeil M; Fearnley, Thomas E; Carrim, Zia I

doi:10.1136/jnnp.2009.200089

Cited by 11 publications

(12 citation statements)

References 3 publications

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“…Other demographic features of our ODD cohort were consistent with previously published reports [ 3 , 9 , 13 ]. ODD were predominantly bilateral (66%), a female predilection was noted (62%), and 73% was Caucasian ( Table 2 ).…”

Section: Resultssupporting

confidence: 90%

“…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 ]. The number and size of drusen are variable, and their location can be superficial or buried within the optic nerve head.…”

Section: Introductionmentioning

confidence: 99%

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Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort

Serpen

Prasov

Zein

et al. 2020

Journal of Ophthalmology

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Background/Aims. Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc, and their burden in ocular conditions is unknown. As ODD can be associated with visual field defects further compromising already degenerating visual function in patients with retinal degenerations, it is important to further our knowledge of ODD in inherited eye disease. The present study aims to evaluate prevalence, demographic features, and optic disc parameters of eyes with superficial ODD in inherited eye conditions. 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.

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Section: Resultssupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort

Serpen

Prasov

Zein

et al. 2020

Journal of Ophthalmology

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“…Population studies have reported a prevalence of 0.34%–2% 4,17. Optic disc drusen are bilateral in 75%–86% of cases but are usually asymmetric 18. There is no gender bias and no association with refractive error 19.…”

Section: Discussionmentioning

confidence: 99%

Acute visual loss in a patient with optic disc drusen

Tan

Tow

2013

OPTH

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Here we report a case of sudden, unilateral, painless visual loss in a middle-aged patient. A 45-year-old gentleman with no known past medical history presented with acute painless left visual impairment. Clinically, he was found to have a left optic neuropathy associated with a swollen and hyperemic left optic disc. The right optic disc was noted to be small and crowded, and both optic discs were noted to have irregular margins. Humphrey perimetry revealed a constricted visual field in the left eye. Fundus autofluorescence imaging revealed autofluorescence, and B-scan ultrasonography showed hyperreflectivity within both nerve heads. Blood investigations for underlying ischemic and inflammatory markers revealed evidence of hyperlipidemia but were otherwise normal. A diagnosis of left nonarteritic anterior ischemic optic neuropathy (NAAION) was made, with associated optic disc drusen and hyperlipidemia. NAAION typically occurs in eyes with small, structurally crowded optic discs. The coexistence of optic disc drusen and vascular risk factors may further augment the risk of developing NAAION.

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“…Reported complications of disc drusen can include acute visual field defect, retinal vein or artery occlusion and peripapillary choroidal neovascularization [4, 6], believed to be due to compressive effects within the optic nerve head [6]; and commonly small discs [7] and anomalous vessel branching [8] are present.…”

Section: Discussionmentioning

confidence: 99%