Expect a myriad of presentations for optic nerve head drusen

SEATTLE – Optic nerve head drusen presents differently in children and adults, and correct diagnosis is imperative to avoid needless and costly interventions, Jennifer Jones, OD, said here at Optometry’s Meeting.

Jones presented her research during a “live poster session.”

“Most patients with optic nerve head (ONH) drusen will have no predisposing ocular systemic conditions,” she said. “They will usually be asymptomatic; their visual acuity will be preserved.”

However, ocular sequelae may include visual field defects, vascular occlusion, hemorrhage and choroidal neovascularization. ONH drusen near the surface are usually easily visualized with ophthalmoscopy, but buried drusen may cause the nerve to have a congested, swollen appearance, the poster stated.

Jones said proper diagnosis is important to avoid unnecessary testing.

“Some helpful, noninvasive tests to help with diagnosis, aside from funduscopy, are B-scan ultrasonography, CT/MRI, fluorescein angiography and optical coherence tomography,” Jones said. “Regular monitoring is important to rule out any accompanying disorders.”

Jones shared five cases reports of patients of varying ages and demographics who had ONH drusen.

Jennifer Jones

The first patient as a 5-year-old white female who was being followed up for variable disc drusen diagnoses 3 months prior, Jones said. The patient had accommodative esotropia and an unremarkable history. Her cup-to-disc ratio was small, but otherwise nothing was apparently wrong. Her left optic nerve also had a small cup-to-disc ratio with possible rim tissue indistinct margins.

Nothing showed in the red-free photos, but the B-scan images showed ONH drusen in both eyes, Jones continued. With OCT analysis of the nerve fiber layer (NFL), the images showed a lumpy appearance, especially in the left eye.

“The patient and the mother were educated on the findings and advised to return in 6 months for monitoring,” she said.

The second case was a 13-year-old Hispanic male who had mild headaches twice a week and played a lot of video games, Jones said. His ocular and medical history were unremarkable, and his visual acuity was corrected to 20/15.

In the dilated exam, the right eye appeared normal, but the left eye appeared more hyperemic with distinct margins, a finding not noted in prior visits. No spontaneous venous pulsation was noted, and the cup-to-disc ratios were small, larger in the left eye, she said.

The B-scan showed no obvious drusen in the right eye, and the left eye was not clear. The visual field was unremarkable. The OCT was “fairly normal” in the right eye, but the left eye showed elevation and irregularity in rim tissue, she said. An MRI came back normal.

The diagnosis was buried ONH drusen, larger in the left eye than the right, Jones said. The patient was instructed to return in 6 months.

A 14-year-old African-American female had corrected visual acuity of 20/20 OU, Jones continued. The ONH was irregular and elevated with a scalloped margin and a lumpy appearance in both eyes. Cup-to-disc ratios were small. On OCT, the NFL demonstrated a lumpy appearance.

A 24-year-old Hispanic female with a history of pseudotumor cerebri had an unremarkable MRI 4 years prior for a soft spot in the skull, however, she reported waking up with headaches that rarely went away, Jones said. The patient was 5 feet, 6 inches tall and weighed 243 pounds.

The patient’s best corrected visual acuity was 20/20 OU. The optic nerves had a lumpy appearance, confirmed by OCT, and “the cup-to-disc ratio was so small they could not even appreciate a cup,” Jones said.

The patient was educated on the findings and told to return in 1 year.

A 42-year-old Caucasian male said he had been told his nerves were abnormal. The exam found his cup-to-disc ratios to be small, Jones said. The vessels in both eyes were tortuous.

“The retina specialist felt that because the tortuosity was symmetrical, it was just a congenital anomaly, and the patient was told to return in a year,” she said.

“We compared these five patients,” Jones said, “and as far as drusen being visible on the slit lamp, we saw that in the three older patients. The second patient was the only one not obvious on the B-scan.”

Jones responded to a question from the audience regarding the decision to prescribe intraocular pressure-lowering medications.

“If you see visual defects that are progressing over time, you might consider IOP meds to keep that from progressing,” she said, “and brimonidine might be the first one to try for those cases.” – by Nancy Hemphill, ELS, FAAO

Disclosure: Jones reported no financial disclosures.

Optometry's Meeting

Expect a myriad of presentations for optic nerve head drusen