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.