BASICS

DESCRIPTION

Optic disc elevation unrelated to increased intracranial pressure (ICP)

EPIDEMIOLOGY

Incidence

0.3–2.4% (1)[A]

Prevalence

• 3.4–4.9/1000 clinically, up to 20.4/1000 in autopsy studies (2)[A], (3)[A]

• 75% bilateral (1)[A]

– males = females

– Less prevalent in African Americans

RISK FACTORS

Hyperopes and myopes equally affected

Genetics

• Drusen are transmitted as autosomal dominant.

– Rarely visible in an infant, drusen enlarge and calcify with age.

PATHOPHYSIOLOGY

• Elevation and crowding of the optic nerve axons not associated with ICP.

– drusen, collections of a mucoprotein matrix, most often concentrated in the nasal portion of the disc

– remnants of hyaloid system remain with gliosis and/or traction on the axons

– crowding due to a small cup

– tilted disc due to angle of optic nerve entry into eye

– retained myelin

– metastatic or primary tumors of the optic nerve

– scleral infiltration

ETIOLOGY

Drusen are the result of extracellular deposition of axoplasmic material either from mechanical interruption of axonal transport or from axonal degeneration (2)[A].

COMMONLY ASSOCIATED CONDITIONS

• Optic nerve buried or superficial drusen

• Down’s syndrome

• Alagille syndrome (arteriohepatic dysplasia)

• Kenny syndrome (hypocalcemic dwarfism)

• Linear nevus sebaceous syndrome

• Leber’s hereditary optic neuropathy

DIAGNOSIS

HISTORY

• Usually asymptomatic with no visual complaints

– Rarely, brief transient visual obscurations

– Visual field or central acuity loss if associated with complications (see below)

– Presence of hypertension, neurologic symptoms (especially headache), and fever

PHYSICAL EXAM

• Visual acuity

• Color vision

• Pupil exam

– Afferent defect often accompanies complications (see below).

– Not diagnostic

• Measure blood pressure

• Dilated fundus exam

– Disc vessels usually clearly visible

– Rarely may be obscured by gliosis or myelin

– No hyperemia or dilated capillaries

– Elevation greatest in center of disc from which central vessels emerge and is confined only to disc

– Absence of exudates

– Absence of venous congestion

– Anomalously elevated disc has no physiologic cup and is usually small.

– Presence of superficial drusen

– Disc may be tilted.

– Spontaneous venous pulsations may or may not be present.

– Congenitally anomalous vessels may be present.

• Family members may have anomalous discs and drusen.

DIAGNOSTIC TESTS & INTERPRETATION

Lab

• Usually not indicated

• If Leber’s hereditary optic neuropathy suspected, arrange genetic analysis.

Imaging

Stereo disc photos

Diagnostic Procedures/Other

• Visual field

– Peripheral defects develop in 21% of patients with buried drusen and 71% with visible drusen (4)[A].

Nerve fiber bundle defects

Concentric constriction

Enlargement of blind spot

• B-scan ultrasonography

– Buried drusen exhibit high reflectivity

• CT

– Calcifications in disc

• Fluorescein angiography

– Drusen autofluorescence

– True papilledema exhibits late dye leakage and capillary dilation

• Optical coherence tomography (1)[A], (2)[A]

• Pathological findings

– Usually none, invasive procedures not indicated

DIFFERENTIAL DIAGNOSIS

• Optic neuritis

• Posterior scleritis

• Toxoplasmosis

• Idiopathic intracranial hypertension

• Ischemic optic neuropathy

– Anterior

– Giant cell arteritis

• Compressive optic neuropathy

• Optic nerve infiltrates

• Papilledema

• Sarcoidosis

• Optic nerve tumors

• Papillitis

• Leber’s hereditary optic neuropathy

TREATMENT

MEDICATION

Drusen alone need no medical therapy.

ADDITIONAL TREATMENT

General Measures

Patient education (see below)

Issues for Referral

• Choroidal neovascular membrane

– May require laser photocoagulation or use of antivasogenic drugs

• Nonarteric ischemic optic neuropathy

– Optimize cardiovascular status

– Treat even borderline ocular hypertension

IN-PATIENT CONSIDERATIONS

Initial Stabilization

• Evaluate for the presence of severe hypertension and acute neurologic signs and symptoms.

• Measure visual acuity.

• Rule out true papilledema.

Admission Criteria

• Severe hypertension

• Acute visual loss

– Giant cell arteritis in the elderly

Elevated sedimentation rate and or C-reactive protein

• Papilledema

Discharge Criteria

• Vital signs stable

• Acute visual loss static or transient

• Absence of papilledema

• Ophthalmology follow-up

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Annual exam unless complications (see below)

Patient Monitoring

• Physical exam (see above)

• Visual field exam

PATIENT EDUCATION

• Patient and family should be able to relate history of pseudopapilledema to future caregivers.

– Provide disc photo

PROGNOSIS

Usually very good

COMPLICATIONS

• Peripapillary or disc hemorrhage

– Most patients retain normal or near-normal vision.

• Peripheral visual field loss in 71–75%

• Loss of central vision

– Acute and nonprogressive

– Usually preceded by progressive peripheral field loss

– A diagnosis of exclusion

• Nonarteritic ischemic optic neuropathy

• Retinal artery or vein occlusion

• Transient visual loss

– Rarely may be a harbinger of retinal vascular occlusion

• Peripapillary subretinal neovascularization

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