Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series

Robert J White; Daniel J Watson; Dara D Koozekanani; Sandra R Montezuma

doi:10.1159/000485963

Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series

Case Rep Ophthalmol. 2018 Jan 26;9(1):76-86. doi: 10.1159/000485963. eCollection 2018 Jan-Apr.

Authors

Robert J White¹, Daniel J Watson¹, Dara D Koozekanani¹, Sandra R Montezuma¹

Affiliation

¹ Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA.

Abstract

Purpose: To report the association of optic nerve head (ONH) drusen with Best vitelliform macular dystrophy (BVMD).

Methods: Chart review.

Patients: Five patients from 3 families.

Results: Multimodal imaging and ophthalmic examination demonstrated findings consistent with ONH drusen, in association with BVMD, in 5 patients.

Conclusion: We report the association of BVMD with ONH drusen in 5 patients. This combination has previously been reported only once. We recommend that patients with a diagnosis of BVMD undergo autofluorescence and ultrasound imaging of the optic nerve to help facilitate this diagnosis, as some ONH drusen can be buried.

Keywords: Best disease; Best vitelliform macular dystrophy; Optic nerve head drusen.

Publication types

Case Reports