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Unilateral Optic Disc Swelling:
Differential Diagnosis & Evaluation
Karl C. Golnik, MD, MEd
Professor & Chairman
Department of Ophthalmology
University of Cincinnati & the Cincinnati Eye Institute
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Objectives
• List the differential diagnosis of
unilateral optic disc swelling.
• Outline the diagnostic approach to
the patient with unilateral optic disc
swelling.
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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!
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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
![Page 5: Unilateral Optic Disc Swelling: Differential Diagnosis ...waeps.net/2016meeting/physician/handouts/golnik_unilateral.pdf · Unilateral Optic Disc Swelling: Differential Diagnosis](https://reader030.fdocuments.us/reader030/viewer/2022020317/5bd5a70b09d3f2623e8c1f86/html5/thumbnails/5.jpg)
Optic Neuritis
Nonspecific term describing optic
nerve involvement by inflammation
infection, or demyelination.
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• 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
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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
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• VA 20/200 OD
20/20 OS
• Pupils RAPD OD
• VF OD shown
• VF OS normal
Diagnosis?
Evaluation?
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spectrum of VF defects
in the ONTT
Keltner et al. Arch
Ophthalmol 1994;112:946.
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papillitis
35%
retrobulbar neuritis
65%
Typical Optic Neuritis (Demyelinating/Idiopathic)
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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!
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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
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ANN NEUROL 2011; 69:292-302.
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• VA 20/200 OD
20/20 OS
• Pupils RAPD OD
• VF OD shown
• VF OS normal
Diagnosis?
Evaluation?
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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
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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.
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Neuromyelitis Optica (Devic)
• Idiopathic inflammatory demyelinating CNS
disease
• Unilateral or Bilateral optic neuritis
• Transverse myelitis
• Monophasic or polyphasic course
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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
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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
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Sarcoid can cause optic neuropathy with or without disc
swelling. Check angiotensin converting enzyme, CXR if disc
swelling is more than mild.
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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
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Neuroretinitis - optic disc swelling and macular star of
exudate.
cat scratch disease, idiopathic, toxoplasmosis,
tuberculosis, syphillis
NOT MS!
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Syphilis Cases
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Infectious Optic Neuropathy
Summary
• Presents like any subacute/acute optic neuropathy
• Must know disease prevalence in your region
• Prognosis probably related to treatment timing
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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
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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
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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
![Page 30: Unilateral Optic Disc Swelling: Differential Diagnosis ...waeps.net/2016meeting/physician/handouts/golnik_unilateral.pdf · Unilateral Optic Disc Swelling: Differential Diagnosis](https://reader030.fdocuments.us/reader030/viewer/2022020317/5bd5a70b09d3f2623e8c1f86/html5/thumbnails/30.jpg)
Anterior Ischemic Optic Neuropathy
(AION)
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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
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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)
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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
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AION - Mimic
Amiodarone? (Cordone,
Pacerone)
From: Chen D, Hedges DR. Sem Ophthalmol 2003;18:169-73. Based
on review of 73 patients.
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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
![Page 36: Unilateral Optic Disc Swelling: Differential Diagnosis ...waeps.net/2016meeting/physician/handouts/golnik_unilateral.pdf · Unilateral Optic Disc Swelling: Differential Diagnosis](https://reader030.fdocuments.us/reader030/viewer/2022020317/5bd5a70b09d3f2623e8c1f86/html5/thumbnails/36.jpg)
Infiltration
leukemia lymphoma
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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
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Retinal-Choroidal Collaterals
old CRVO
meningioma
COAG
idiopathic
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Chorioretinal Folds
tumor
Graves’
papilledema
idiopathic
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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
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Thank-you for your attention.