Laboratory Studies

Laboratory studies are not usually necessary in the workup of patients with disc drusen.

In patients with suspected Leber hereditary optic neuropathy, mitochondrial mutations are helpful.

Imaging Studies

B-scan ultrasonography may be useful in identifying buried disc drusen. Because drusen are calcified, they demonstrate high reflectivity on ultrasound.

While rarely indicated, a CT scan may show small areas of calcification within the disc substance, which represent calcified disc drusen. Progressive field loss, dyschromatopsia, or visual acuity loss in patients with suspected buried disc drusen or visible disc drusen warrants consideration of neuro-imaging studies to rule out occult CNS lesions, in which case a CT scan carries the advantage of possibly detecting buried disc drusen.

Fluorescein angiography can be used to rule out true papilledema, which exhibits increased dilation of the peripapillary capillaries with late dye leakage. Disc drusen may autofluoresce on fluorescein angiography, which can be seen with red-free photo techniques, using the appropriate filters.^[2](Buried disc drusen may not autofluoresce.) In Leber hereditary optic neuropathy, disc leakage is not seen on fluorescein angiography.

After studying 68 eyes with optic nerve head drusen, Merchant et al concluded that enhanced depth imaging optical coherence tomography scanning detects lesions more often and better evaluates their shape and structure than conventional testing.^[3]Lee et al also found that optic head nerve drusen shows a diverse range of findings on optical coherence tomography scanning based on age and disc size.^[4]

Other Tests

Visual field tests should be considered, especially if optic nerve drusen are suspected. Constriction of the visual field can gradually occur; patients rarely have progressive field loss that is insidious or rapid.

Stereo color photographs of the optic discs are useful to document changes.

Procedures

No additional procedures are indicated.

Treatment & Management

Media Gallery

Superficial optic nerve drusen. Note the irregular disc margins with preserved vascular and perivascular detail.

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Author

Mitchell V Gossman, MD Partner and Vice President, Eye Surgeons and Physicians, PA; Medical Director, Central Minnesota Surgical Center; Clinical Associate Professor, University of Minnesota Medical School

Mitchell V Gossman, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, Minnesota Medical Association, North American Neuro-Ophthalmology Society, Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Joseph Giovannini, MD Chief of Ophthalmology, Eye Surgery Center, David Grant Medical Center, Travis Air Force Base

Joseph Giovannini, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy, Sr, MD † Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Edsel B Ing, MD, PhD, MBA, MEd, MPH, MA, FRCSC Professor, Department of Ophthalmology and Vision Sciences, Sunnybrook Hospital, University of Toronto Faculty of Medicine; Incoming Chair of Ophthalmology, University of Alberta Faculty of Medicine and Dentistry, Canada

Edsel B Ing, MD, PhD, MBA, MEd, MPH, MA, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Society of Ophthalmic Plastic and Reconstructive Surgery, Canadian Medical Association, Canadian Ophthalmological Society, Canadian Society of Oculoplastic Surgery, Chinese Canadian Medical Society, European Society of Ophthalmic Plastic and Reconstructive Surgery, North American Neuro-Ophthalmology Society, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, Statistical Society of Canada

Disclosure: Nothing to disclose.

Acknowledgements

Georgia Chrousos, MD Clinical Professor, Department of Ophthalmology, Division of Neuro-Ophthalmology and Pediatric Ophthalmology Services, Georgetown University Medical Center

Disclosure: Nothing to disclose.

Brian R Younge, MD Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.