Unilateral Optic Disc Swelling:

Differential Diagnosis & Evaluation

Karl C. Golnik, MD, MEd

Professor & Chairman

Department of Ophthalmology

University of Cincinnati & the Cincinnati Eye Institute

Objectives

• List the differential diagnosis of

unilateral optic disc swelling.

• Outline the diagnostic approach to

the patient with unilateral optic disc

swelling.

Unilateral Optic Disc Swelling*

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

* This does not represent an

exhaustive list of causes!

Unilateral Optic Disc Swelling*

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

Optic Neuritis

Nonspecific term describing optic

nerve involvement by inflammation

infection, or demyelination.

• Demyelinating, Idiopathic

Typical Optic Neuritis

• Mild disc swelling (no exudate/hemorrhage)

• Not steroid dependent

Atypical Optic Neuritis

• Disc swelling may be severe (with

exudate/hemorrhage)

• May be steroid dependent

Inflammatory

• Neuromyeltis Optica (Devics)

• Sarcoid

• Autoimmune Optic Neuropathy (AON)

• Chronic Relapsing Inflammatory Optic Neuropathy

(CRION)

• Other systemic (SLE, Wegeners)

Infectious

• Syphilis, Lyme, Bartonella, TB

Chikungunya virus Optic Neuritis Associated With Chikungunya Virus Infection in

South India. Apoorva M. et al. Arch Ophthalmol 2007; 125:1381.

Atypical Optic Neuritis

• VA 20/200 OD

20/20 OS

• Pupils RAPD OD

• VF OD shown

• VF OS normal

Diagnosis?

Evaluation?

spectrum of VF defects

in the ONTT

Keltner et al. Arch

Ophthalmol 1994;112:946.

papillitis

35%

retrobulbar neuritis

65%

Typical Optic Neuritis (Demyelinating/Idiopathic)

ONTT - Visual Outcome

Visual acuity 20/40 or better:

placebo 94.3%

IV steroids 93.7%

oral steroids 92.6%

IV only affects rate of recovery - not

final vision!

ONTT: Development of MS at 15 years

Arch Neurol 2008 65:727.

• 50 % regardless of MRI

• 25% if MRI normal at onset

• 72% if ≥ 1 plaque at onset

ANN NEUROL 2011; 69:292-302.

• VA 20/200 OD

20/20 OS

• Pupils RAPD OD

• VF OD shown

• VF OS normal

Diagnosis?

Evaluation?

Inflammatory

• Neuromyeltis Optica (Devics)

• Sarcoid

• Autoimmune Optic Neuropathy (AON)

• Chronic Relapsing Inflammatory Optic Neuropathy

(CRION)

• Other systemic (SLE, Wegeners)

Infectious

• Syphilis, Lyme, Bartonella, TB

Chikungunya virus Optic Neuritis Associated With Chikungunya Virus Infection in

South India. Apoorva M. et al. Arch Ophthalmol 2007; 125:1381.

Atypical Optic Neuritis

Atypical Optic Neuritis

• Important to diagnose because they are usually responsive to steroids and/or antibiotics and need treatment to improve vision.

• May also be steroid dependent, relapsing as steroid dose is reduced sometimes requiring immunosuppression for many years.

Neuromyelitis Optica (Devic)

• Idiopathic inflammatory demyelinating CNS

disease

• Unilateral or Bilateral optic neuritis

• Transverse myelitis

• Monophasic or polyphasic course

Neuromyelitis Optica - Diagnosis

• Serum Biomarkers – NMO-IgG

• Targets aquaporin-4, dominant water channel protein

• Specificity reported 95-100%

• Diagnostic Criteria:

• Optic neuritis and acute myelitis + 2/3 of the

following:

• Spinal cord lesion extending >3 vertebral segments

• Brain MRI findings not satisfying MS criteria

• NMO-IgG seropositive

Wingerchuk et al. Neurology 2006; 66(1), 1485-1489

NMO Treatment

• IV Corticosteroids

• Potentially decreases attack severity and speeds recovery

• Therapeutic Plasmapheresis

• Effective rescue treatment if steroid unresponsive

• Chronic Immunosuppressive Treatment (if recurrent)

• Azathioprine ± prednisone – most common treatment

• Mitoxantrone

• Mycophenolate Mofetil

• Rituximab

Sarcoid can cause optic neuropathy with or without disc

swelling. Check angiotensin converting enzyme, CXR if disc

swelling is more than mild.

Unilateral Optic Disc Swelling*

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

Neuroretinitis - optic disc swelling and macular star of

exudate.

cat scratch disease, idiopathic, toxoplasmosis,

tuberculosis, syphillis

NOT MS!

Syphilis Cases

Infectious Optic Neuropathy

Summary

• Presents like any subacute/acute optic neuropathy

• Must know disease prevalence in your region

• Prognosis probably related to treatment timing

Unilateral Optic Disc Swelling*

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Lebers?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

22-yo-wm c/o blurry vision OS x 1 month.

VA: 20/15 OD, 20/200 OS, HRR: 10/10 OD, 0/10 OS

P: L-RAPD

2 wks later OD 20/200

Lebers Hereditary

Optic Neuropathy

Unilateral Optic Disc Swelling*

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

Anterior Ischemic Optic Neuropathy

(AION)

Non-Arteritic AION (NAION)

Age, HTN, DM, cholesterol

Disc-at-Risk

Nocturnal Hypotension?

Not carotid stenosis

15% sequential (5yrs)

50% no change

43% improve (some)

7% worsen

cup to big

Giant Cell (Temporal)

Arteritis

• Always need to consider & ask the

right questions:

• jaw claudication, scalp tenderness,

HA, fatigue

• Check ESR, CRP, CBC/platelets

pallid swelling suspicious

Arteritic (AAION) vs.

Non-Arteritic (NAION)

AION - Causes

Sildenafil (Viagra)?

Pomeranz et al. J Neuro-Ophthalmol 2005; 25:9-13.

• 7 patients from 1999-2003 at 1 institution

• men, age 50-69

• onset within 36 hrs

• all had hypertension, dm, hypercholesterolemia

• 4/7 disc-at-risk, 3/7 not specified

• 7 other previously reported men, age 48-62

• onset within 12 hrs, 5/7 with risk factors

• 3/7 disc-at-risk, 4/7 not specified

AION - Mimic

Amiodarone? (Cordone,

Pacerone)

From: Chen D, Hedges DR. Sem Ophthalmol 2003;18:169-73. Based

on review of 73 patients.

Unilateral Optic Disc Swelling*

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

Infiltration

leukemia lymphoma

Unilateral Optic Disc Swelling*

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

Retinal-Choroidal Collaterals

old CRVO

meningioma

COAG

idiopathic

Chorioretinal Folds

tumor

Graves’

papilledema

idiopathic

Summary - Unilateral Optic Disc Swelling

Inflammation

• Typical optic neuritis (idiopathic,

demyelinating)

• Atypical Optic Neuritis (perineuritis, neuromyeltis optica,

sarcoid, autoimmune (AON), chronic

relapsing inflammatory (CRION), other

systemic (SLE, Wegeners)

Infection

• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber?

Ischemia

• NAION

• AAION

• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration

• Lymphoma, Leukemia, other

Compression

• Tumor, Graves, ICP, drusen

Miscellaneous

hypotony, trauma, vit-pap traction,

pseudo, papillophlebitis, CRVO

Thank-you for your attention.