Optic Disc Drusen (Pseudopapilledema) Clinical Presentation

Most patients are asymptomatic. No visual symptoms are usually present.

Visual field loss

In many patients with disc drusen, visual field defects eventually develop along with afferent pupil defect, though patients usually remain symptom free.

Transient visual obscurations

A minority of patients with disc drusen experience transient visual flickering or graying out that is similar to transient visual obscurations that are sometimes seen in patients with papilledema.

Rarely, patients might experience permanent visual loss from secondary processes. For example, disc drusen may increase the risk of later developing subretinal neovascular membranes, retinal vascular occlusion, or ischemic optic neuropathy.

Visual acuity

Patients with disc drusen may eventually lose central acuity. Although unusual, this visual loss would most likely follow a long period of gradual field constriction, otherwise this should arouse suspicion of another process.

Take a history concentrating on neurologic problems and symptoms, hypertension, and febrile illness.

Perform visual acuity, color vision, and pupillary examinations. If present, document a relative afferent pupillary defect. Although the presence or absence of an afferent pupillary defect is not helpful diagnostically per se, generally, an afferent pupil defect is mild with early field loss.

Blood pressure should be checked since optic nerve swelling can be a sign of malignant hypertension, a treatable systemic medical emergency.

Perform a careful dilated fundus examination.

Edema of the nerve fiber layer that blurs the disc margins and the peripapillary vasculature is a hallmark of true papilledema. Usually, the peripapillary vessels are clearly seen in pseudopapilledema, except in such cases as myelinated nerve fibers.

The angle of the optic nerve head should be noted. A tilted disc results from an optic nerve that enters the eye at a sharply oblique angle; it usually has a characteristic appearance of a prominently elevated nasal aspect with a poorly defined or sunken temporal aspect. Patients with tilted discs may have associated marked astigmatism or high myopia.

Other anatomical variants include persistent hyaloid remnants, gliosis of the optic nerve head, and myelination of the nerve fiber layer. These entities have a characteristic appearance on dilated fundus examination.

When superficial drusen (small, white-to-yellow, granular bulging of the substance of the disc) are present, they greatly aid in the diagnosis. At other times, drusen can be deeply buried in the substance of the nerve, and the clinical diagnosis is more subtle. Buried drusen may be visualized via retroillumination of the peripapillary retina and the sclera. See the image below.

In papilledema, the disc is usually hyperemic with sometimes subtle dilatation of the superficial optic nerve vessels, and an increased frequency of hemorrhages and cotton-wool spots exists. Also, Paton lines and optociliary shunt vessels may be seen with retention of the central cup until late in the course of the disease. A severely crowded nerve due to other causes (eg, hyperopia, disc drusen) may display subtle congestion of optic nerve vasculature as well.

In pseudopapilledema, the disc is yellow, the cup may be small or absent, venous congestion is not present, spontaneous venous pulsations are often present, congenitally anomalous vessels may be seen, and the disc abnormality may be familial.

It may be fruitful to examine family members for disc drusen.

See the list below:

• Congenitally anomalous disc

• Hyperopia

• Optic disc drusen

• Tilted disc

• Myelinated nerve fiber layer

With disc drusen, gradual loss of the peripheral visual field may occur and, rarely, loss of central vision.