aka Ophthalmology Befuddler 009
A 31 year-old woman presents with loss of vision in her right eye that has progressed over the last 2 days. She has mild discomfort when her eye moves. On review of systems he mentions that she has had episodes of numbness in her right lower limb and left hand.
Examination confirms that she has reduced visual acuity. A right-sided Marcus-Gunn pupil is also noted.
This appearance is seen on funduscopy of the right eye:
The other eye has a normal optic disc is normal:
Following consultation with an ophthalmologist and a neurologist an MRI of her brain and spine is performed. A total of 4 discretes areas of demyelination are seen.
Q1. What is the likely diagnosis?
Optic neuritis — papillitis is seen on fundoscopy.
The history and MRI findings are suggestive of an underlying diagnosis of new onset multiple sclerosis.
Q2. What features should be sought when taking the history?
The patient is typically female and aged between 18 and 45 years. Check for:
- Painless loss of vision over hours to days, which may be subtle or profound, with a nadir at about 1 week. Determine the rapidity of onset.
- Reduced visual acuity, colour and contrast vision may occur
- Usually it is unilateral, but can be bilateral
- There may have been previous episodes
- There may be orbital pain associated with eye movements
- Other focal neurological symptoms may be present (e.g. paraesthesiase)
- features suggestive of an underlying cause (see Q4), e.g. history of multiple sclerosis
Q3. What are the features on examination?
- Visual acuity — decreased
- Colour vision — decreased
- Visual fields — patchy defects may be present, often arcuate or central
- Pupils — a Marcus-Gunn pupil (a relative afferent pupilary defect or RAPD) may be present.
- Fundoscopy — usually normal (retrobulbar optic neuritis — “neither the patient nor the doctor sees anything!”), papillitis may be present (see below for a comparison with papilloedema).
- Neurological examination — assess for focal neurological defects.
Q4. What are the causes of this condition?
- multiple sclerosis
- viral — e.g. infectious mononucleosis, herpes zoster, viral encephalitis
- childhood infections or vaccinations — e.g. measles, mumps, chickenpox
- Granulomatous inflammations — e.g. tuberculosis, syphilis, sarcoidosis, cryptococcus
- Contiguous inflammation of the meninges, orbit, or sinuses.
The differential includes optic neuropathies such as:
- toxic optic neuropathy — e.g ethambutol, chloroquine, nicotine, alcohol
- metabolic optic neuropathy — vitamin B12 deficiency
- ischemic optic neuropathy — diabetes mellitus, giant cell arteritis, atherosclerosis
- compressive optic neuropathy — e.g. orbital tumour, intracranial mass
Q5. What are the Pulfrich phenomenon and Uhthoff sign?
Both of these are occassionally present in optic neuritis:
- Pulfrich phenomenon — altered perception of moving objects
- Uhthoff sign — worsening of symptoms with exercise or increase in body temperature
Q6. What is the role for oral corticosteroids in the early management of this condition?
There is no role — if you’re going to give steroids, give them IV!
There is an increased risk of optic neuritis recurrences in patients treated with oral prednisone.
Q7. What are the effects of steroids on this condition?
Steroid therapy has been found to:
- reduce the risk of initial progression from optic neuritis to clinically definite multiple sclerosis for 3 years, but had no effect at 5 years.
- increases rate of vision return (at 1 and 3 weeks) but does not improve the final visual outcome (at 8 weeks) or alter the frequency of recurrences.
Q8. What is the investigation and management of this condition?
- Urgent ophthalmology referral.
- consider FBC, ESR, CRP and work up of possible inflammatory/ infectious causes.
- consider MRI — especially if atypical or a first episode, usually in consultation with the ophthalmology or neurology service.
In a first episode of optic neuritis or a patient who has not been diagnosed with multiple sclerosis:
- A 14 day course of steroids starting with methylprednisolone 1 g/day IV for 3 days is given if there is any evidence of demyelination on MRI, and may be given even if the the MRI is negative.
Patients known to have multiple sclerosis or have had previous optic neuritis are not treated with steroids and are observed.
Q9. What percentage of people presenting with this condition develop multiple sclerosis at 5 years?
A elderly man is found in his home unconscious after his son was unable to contact him on the phone. As part of a neurological work up, funduscopy is performed.
Findings similar to this are seen in the left eye:
Q1. What does funduscopy show?
The observed features include:
- swelling of the optic disc
- blurring of the disk margins
- loss of physiologic cupping
- Flame-shaped hemorrhages and yellow exudates appear near the disk margins as edema progresses.
When observed in real time there may be obliteration of spontaneous venous pulsations (absent in 20% of normal people anyway).
Q2. What symptoms are usually associated with this finding?
Papilloedema itself is usually asymptomatic.
There may be episodes of transient, often bilateral visual loss (lasting seconds), precipitated by rising from a lying or sitting position as a result of intracranial pressure changes. Otherwise the presentation reflects the underlying cause and symptoms of raised intracranial pressure (e.g. headache and vomiting, worse in the morning) may be present.
Q3. Compare and contrast the expected examination findings of the conditions affecting Patient 1 and Patient 2.
Papillitis (optic neuritis):
- pupilary reaction — RAPD present
- visual acuity — reduced
- colour vision — red desaturation
- visual fields — large central scotoma
- pain on eye movement — present
- localisation — usually unilateral
- fundoscopy — blurred disc margins
- pupilary reaction — normal
- visual acuity — normal (transient loss)
- colour vision — normal
- visual fields — large blind spot, peripheral constriction
- pain on eye movement — present
- localisation — usually bilateral
- fundoscopy — blurred disc margins, no venous pulsation
Watch this RootAtlas.com video to see what spontaneous venous pulsations look like on funduscopy.
Q4. What are the possible underlying causes of this condition?
- space-occupying lesions (e.g. neoplasms, trauma, infection, and vascular causes)
- benign intracranial hypertension (trauma, drugs, idiopathic, Addisons, sinus thrombosis)
- central venous sinus thrombosis
- hydrocephalus – obstructive, communicating (production vs. absorption of CSF)
- high CSF protein — e.g. Guillain-Barre Syndrome
- central retinal vein occlusion (CRVO)
- retro-orbital mass
- hypertension (grade IV)
When you perform funduscopy on the man’s other eye you see a similar appearance to this:
Q5. What is shown?
Atophy is a misnomer — it is not a result of disuse!
Q6. What is the key feature of this condition on fundoscopy?
A pale insipid optic disc (loss of the normal yellowish colour), with absence of normal physiological cupping.
Q7. What are the causes of this abnormality?
Optic atrophy may be the end stage of:
- chronic papiloedema
- chronic optic neuritis
- optic neuropathies (e.g. toxic, metabolic, ischemic and compressive)
- familial, e.g. retinitis pigmentosa
Q8. What is pseudopapilloedema?
Pseudopapilledema mimics papilloedema and may result from the presence of optic disc drusen or a congenitally anomalous disc.
The optic disc is not truly swollen — the characteristic findings include:
- Vessels overlying the disc are not obscured
- the disc is not hyperemic
- surrounding nerve fiber layer is normal.
- spontaneous venous pulsations are usually present.
Further investigation may still be required to rule out raised intracranial pressure.
- Beck RW, Cleary PA, Trobe JD, Kaufman DI, Kupersmith MJ, Paty DW, Brown CH. The effect of corticosteroids for acute optic neuritis on the subsequent development of multiple sclerosis. The Optic Neuritis Study Group. N Engl J Med. 1993 Dec 9;329(24):1764-9. PMID: 8232485.
- Ehlers JP, Shah CP, Fenton GL, and Hoskins EN. The Wills Eye Manual: Office and Emergency Room Diagnosis and Treatment of Eye Disease (5th edition). Lippincott Williams & Wilkins, 2008.
- Jeff Mann’s EM Guidemaps. Loss of vision.
- Marx JA, Hockberger R, Walls RM. Rosen’s Emergency Medicine: Concepts and Clinical Practice, 7th edition (2009) Mosby, Inc. [mdconsult.com]
- The 5-year risk of MS after optic neuritis. Experience of the optic neuritis treatment trial. Optic Neuritis Study Group. Neurology. 1997 Nov;49(5):1404-13. PMID: 9371930.
- NSW Statewide Opthalmology Service. Eye Emergency Manual — An illustrated Guide, 2007. [link to free pdf]
- Patel V, Oetting TA. Optic Nerve Drusen: 19 year-old female with blurred vision. EyeRounds.org. August 14, 2007 [fulltext online]
- Sellebjerg F, Nielsen HS, Frederiksen JL, Olesen J. A randomized, controlled trial of oral high-dose methylprednisolone in acute optic neuritis. Neurology. 1999 Apr 22;52(7):1479-84. PMID: 10227638.