7 - Less Common Neurological Disorders Flashcards

1
Q

What is the presentation of Horner’s syndrome?

A

Triad of miosis, partial ptosis and anhydrosis

Due to interruption of the face’s sympathetic supply (oculosympathetic pathway)

Miosis leads to anisocoria

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2
Q

What is the aetiology of Horner’s syndrome?

A

Lesion anywhere from first to third order neurone

1st Order (Brainstem)

  • Stroke (Medullary), MS, SOL, Syringomyelia (Bilateral), Cervical Cord trauma

2nd Order (Thoracic Outlet)

  • Pancoast tumour, Thoracic outlet lesion, Brachial plexus injury, Thoracic aneurysm

3rd Order (Carotid)

  • Carotid artery dissection, Cavernous sinus pathology, neck mass
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3
Q

How can you tell if a Horner’s syndrome is due to a carotid artery dissection?

A

Will be acute and painful!!!

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4
Q

What is the degree of anhidrosis in Horner’s syndrome?

A

Depends on the neurone affected

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5
Q

What investigations should you do if a patient has Horner’s syndrome?

A

Prompt evaluation for underlying cause

- CT angiography: look for carotid dissection as risk of stroke

- CT chest: look for Pancoast tumour

- MRI spine: spinal cord lesions

- MRI head: look for brainstem or cavernous sinus pathology

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6
Q

If a Horner’s disease is very subtle, what test can you do to confirm diagnosis?

A

- Cocaine Drops: no dilation if sympathetic chain involved

- Apraclonidine: dilation due to dennervation sensitivity

- Hydroxyamphetamine: Localises lesion, if doesn’t dilate it is 3rd order lesion. Stimulates release of noradrenlaine from post ganglionic neurones

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7
Q

How is Horner’s syndrome managed?

A

Treat underlying cause

  • If acute and painful this is a neurological emergency as could be carotid artery dissection need to be sent to stroke unit (HASU)
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8
Q

What is the best way to do a neurological examination of a patient in a coma?

A
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9
Q

What pathology can arise at the cerebellopontine angle?

A

- Acoustic Neuroma/Vestibular Schwanomma (80%)

  • Lipoma
  • AV malformations
  • Haemangioma
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10
Q

What is an acoustic neuroma? (vestibular schawnomma)

A

Benign cerebellopontine angle tumour of the schwann cells of the vestibular nerve

Usually unilateral and grow very slowly (1-2mm/year)

Bilateral in Neurofibromatosis Type 2

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11
Q

How do acoustic neuromas typically present?

A
  • Unilateral sensorineural hearing loss
  • Vertigo
  • Tinnitus
  • Facial nerve palsy
  • As they grow larger they can cause ipsilateral V, VI, IX and X enrve palsies and ipsilateral cerebellar signs. Can also have signs of increased ICP
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12
Q

How are acoustic neuromas investigated and managed?

A

Ix

  • Serial gadolinium-enhanced MRI
  • Audiogram

Mx

  • Surveillance with serial MRIs every 6/12 for 2 years then 2 years then every 5 years
  • Microsurgery
  • Radiotherapy
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13
Q

What are some of the risks with microsurgery for an acoustic neuroma?

A
  • CSF leak and meningitis.
  • Cerebellar injury.
  • Stroke.
  • Epilepsy.
  • Facial paralysis (V and VII)
  • Hearing loss (IX)
  • Balance impairment (IX)
  • Persistent headache
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14
Q

What is subacute combined degeneration of the spinal cord?

A

Vit B12 deficiency causes degeneration of the dorsal columns and the corticospinal tracts

Peripheral neuropathy (loss of fine touch, 2-point discrimination, proprioception, and vibration sensations) but pain and temperature fine

Combination of LMN and UMN signs

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15
Q

How does subacute combined degeneration of the cord typically present?

A

Signs and symptoms

  • Symmetrical pins and needles, numbness progressing to weakness
  • Visual impairment
  • Change in mental state
  • Bilateral spastic paralysis
  • Sensations diminished (pressure, vibration, proprioception)
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16
Q

What signs may you elicit on examination of a patient with subacute combined degeneration of the cord?

A

- +ve Romberg sign (e.g falls in low light and shower)

- + Babinski sign (UMN)

- Absent ankle jerk reflex (LMN)

- Brisk knee jerk reflex (UMN)

- Unsteady ataxic gait

- Spastic paralysis

- Loss of vibration sensation

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17
Q

What other symptoms can B12 deficiency cause apart from subacute combined degeneration of the cord?

A
  • Optic atrophy
  • Anaemia
  • Cognitive impairment
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18
Q

How is subacute combined degeneration of the cord investigated and managed?

A

Ix

  • Serum B12 and Folate levels
  • FBC
  • MRI spine T2

Mx

  • B12 replacement either IM, SC or sublingual with hydroxycobalamin
  • Folate replacement
  • Can take 3-6 months to improve, sometimes deficit is irreversible
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19
Q

What is a cavernous sinus syndrome?

A

Any pathology of the cavernous sinus leads to certain symptoms to paralysis of CN’s in the sinus

Causes: Cavernous Sinus Thrombosis, Cavernous Sinus Tumours, Carotid Cavernous Aneurysms

Presentation: Ophthalmoplegia, proptosis, ocular and conjunctival congestion, trigeminal sensory loss and Horner’s syndrome.

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20
Q

What are some causes of a cavernous sinus thrombosis and how does it present?

A

Causes: spread of infection from sinuses or boil/folliculitis on face

Presentation: headache, chemosis, oedema of eyelids, proptosis, painful opthalmoplegia, fever

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21
Q

How is a cavernous sinus thrombosis investigated?

A

- Bloods: thrombophillia screen

- Non-contrast CT: hyperdensity in the affected sinus.

- CT venogram: look for filling defect (‘ empty delta sign’)

- MRI-T2: look for thrombus

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22
Q

How is a cavernous sinus thrombosis treated?

A

- IV antibiotics

- LMWH

- Corticosteroids for swelling

- Surgical drainage of any pus

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23
Q

How do intracranial venous thrombi present in general?

A
  • Presentation is variable but headache, confusion/drowsiness, impaired vision, and nausea/vomiting.

- Seizures, reduced consciousness, focal neurological deficitis, cranial nerve palsies, and papilloedema

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24
Q

What are some causes and some differential diagnoses for an intracranial venous thrombosis?

A

Causes of hypercoagulable state: Pregnancy, COCP, Trauma, Local infection, Tumours, Malignancy, dehydration

Differentials:

  • SAH
  • Meningitis
  • Encephalitis
  • Stroke
  • Intracranial abscess
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25
Q

How are intracranial venous thrombi investigation and managed?

A

Ix

  • MRI/CT (will show infarction not compatible with arterial infarct)
  • CT venogram
  • Bloods for thrombophillia screen
  • LP if no CI

Mx

  • Anticoagulate with LMWH
  • If raised ICP decompresive hemicraniectomy
  • Address risk factors
  • Elevate head 30-40 degrees
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26
Q

What is the most common type of pituitary tumour and what are some conditions that increase the chance of developing a pituitary tumour?

A
  • Usually a benign tumour of the anterior lobe of pituitary (microadenoma)

Conditions:

  • MEN1
  • Carney Complex
  • McCune-Albright Syndrome
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27
Q

How are pituitary tumours classified?

A

Microadenoma = <1cm diameter

Macroadenoma = >1cm diameter

Giant adenomas = prolactinoma with >4cm diameter

Can further be classified by the hormone that they secrete e.g prolactin, GH, no hormone secreted, ACTH, gonadotropin and TSH

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28
Q

What are the clinical features of a pituitary tumour?

A

Mass Effect

- Non-specific headaches

- Bitemporal hemianopia (optic chiasm compression)

- CN V1, V2, III, IV, and VI palsies (cavernous sinus compression)

- CSF rhinorrhea (rare)

Hormonal Effect

  • See image
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29
Q

What is pituitary apoplexy, how does it present and how is it managed?

A

NEUROSURGICAL EMERGENCY

  • Spontaneous haemorrhage into a pituitary tumour or ischaemia of pituitary gland
  • Sudden and severe headache, loss of consciousness, neck stiffness, vomiting, photophobia

Mx: IV hydrocortisone and emergency surgical resection to preserve vision

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30
Q

What are the differential diagnoses for a pituitary tumour?

A
  • Craniopharyngioma (derived from pituitary gland embryonic tissue, supracellar, in children, cystic on imaging)
  • Meningioma
  • Cerebral metastasis
  • Arachnoid cysts
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31
Q

How are pituitary tumours investigated?

A

- Gold standard: MRI

- High resolution CT

- PRL levels: over 2000 suggests prolactinoma

- IGF1: test GH levels

- ACTH, FSH, LH and TFTs

32
Q

How are pituitary tumours managed?

A

Conservative

  • Hormone replace if hyposecretion
  • Dopamine agonsits (Cabergoline) for prolactinoma
  • Somatostatin analogue (Octreotide) for GH

Surgical (Mainstay)

  • Transphenoidal surgery to remove
  • Stereotactic radiotherapy for recurrence
33
Q

What are the complications of transphenoidal surgery?

A
  • CSF leak
  • Meningitis
  • Epistaxis
  • Diabetes Insipidus

Evaluate hormones after surgery after surgery to see if any need replacing

34
Q

What are some causes of falsely elevated PRL?

A
  • Stress
  • Pregnancy
  • Certain antipsychotics and SSRIs
  • Hypothyroidism
  • CKD
  • Status epilepticus
35
Q

What is Charcot-Marie Tooth disease and what causes it?

A

Group of inherited peripheral neuropathies affecting sensory and motor neurones

Autosomal dominant

Type 1 (more common): demyelinating, PMP22

Type 2: axonal

36
Q

How does Charcot Marie Tooth disease present?

A

Usually presents in puberty, length dependent so affects feet first then hands when knees involved

  • High foot arches (pes cavus)
  • Distal muscle wasting (“inverted champagne bottle legs”)
  • Weakness in lower legs, particularly loss of ankle dorsiflexion
  • Weakness in hands
  • Reduced tendon reflexes
  • Reduced muscle tone
  • Peripheral sensory loss
37
Q

What are the 3 main signs to look out for on OSCE examination of a patient with Charcot Marie Tooth syndrome?

A

1. Pes Cavus (high-arched feet)

2. Symmetrical distal muscle atrophy (inverted champagne legs due to peroneal atrophy, claw hands)

3. Thickening and Enlargement of nerves

38
Q

What is a pneumonic to remenber the causes of peripheral neuropathy?

A

A – Alcohol

B – B12 deficiency

C – Cancer and Chronic Kidney Disease

D – Diabetes and Drugs (e.g. isoniazid, amiodarone and cisplatin)

E – Every vasculitis

39
Q

How is Charcot Marie Tooth syndrome investigated in order to make a diagnosis and how is it managed?

A

Ix

  • NCS (reduced conduction velocity in type 1)
  • Genetic testing

Mx

  • Incurable so give supportive care. Most will need walking aids but does not alter life span or mean will end in wheelchair
  • Physiotherapy
  • Podiatrist for foot symptoms and insoles
  • Orthopaedic surgeons
40
Q

What is the cause of Creutzfeldt Jakob Disease?

A

Neuodegenerative disease caused by prions (misfolded protein of PrPc) that can turn other proteins into prions

Spongiform changes in brain (tiny cavities and tubulovesicular structures)

Causes:

- Sporadic

- Inherited

- Variant (BSE) from contaminated CNS tissue

- Iatrogenic from contaminated instruments, corneal transplants, blood transplant

41
Q

How does CJD present?

A
  • Rapidly progressive dementia
  • Psychiatric impairment
  • Myoclonus
  • Eye signs (diplopia, hallucinations, cortical blindness)
42
Q

How is CJD investigated and managed?

A

Ix

  • Tonsil/olfactory mucosal biopsy

- CSF gel electrophoresis showing 14-3-3 protein

  • MRI can distinguish between variant and sporadic

Mx

  • No cure, death in around 6-12 months with sporadic, slightly longer with variant and genetic so palliation
  • Regulations to reduce spread of BSE and iatrogenic transmission
43
Q

What is Wernicke’s encephalopathy?

A

Thiamine (B1 deficiency) with a triad of

  • Confusion
  • Ataxia
  • Opthalmoplegia (nystagmus, lateral rectus or conjugate gaze)
44
Q

What are some causes of Wernicke’s encephalopathy?

A
  • Chronic alcoholism
  • Eating disorders
  • Malnutrition
  • Prolonged vomiting e.g hyperemesis gravidarum, chemo
45
Q

How is Wernicke’s encephalopathy diagnosed and managed?

A
  • Clinical diagnosis

Mx (Emergency)

- Urgent IV Pabrinex (Thiamine) to prevent change to Korsakoff’s

- PO Thiamine until no longer at risk

- Abstain from alcohol

  • If hypoglycaemif give thiamine before glucose as glucose can precipitate Wernicke’s
46
Q

What is the prognosis with Wernicke’s encephalopathy?

A
  • Untreated will lead to death
  • Can progress to Korsakoff’s psychosis and need long term institutional care
47
Q

What is Argyll-Robertson pupil?

A

Neurosyphillis (prostitute pupil)

A pupil that is constricted, unreactive to light but reacts to accomodation

48
Q

Apart from neurosyphillis, what are some other causes of Argyll-Robertson pupil?

A
  • Lyme disease
  • HIV
  • Diabetes
  • MS
  • Sarcoidosis
49
Q

HIV and AIDS can have lots of neurological presentations. What are some examples of these?

A

Acute HIV infection:

  • Transient aseptic meningoencephalitis
  • Myelopathy
  • Neuropathy

Opportunistic infections:

- Toxoplasma Gondii: cerebral abscess, ring enhancing lesion

  • Cryptococcus neoformans: chronic meningitis and seizures

- CMV: encephalopathy

- Syphillis

- TB

Tumours

- Cerebral lymphoma: EBV

- B-Cell Lymphoma

Neuropathies

- Due to HIV or ARV e.g proximal myopathy, painful sensory peripheral neuropathy

50
Q

What prophylaxis is given to people with AIDs to prevent opportunistic infection of Toxoplasma Gondii?

A

AIDS when CD4<200

At CD4<100 give trimethoprim prophylaxis

51
Q

What is chronic HIV associated neurocognitive disorder?

A
  • HIV associated dementia
  • CD4<200
  • Progressive behavioural changes, memory loss, poor attention, bradykinesia
52
Q

What is a syrinx and what are some causes of this?

A

Tubular cavity of the cwentral canal of the cervical cord (syringomyelia) or brain stem (syringobulbia)

Causes: (blockage of CSF from 4th ventricle)

- Arnold-Chiari malformation

  • Basal arachnoiditis
  • Massess e.g cysts. tumours
  • Myelitis
  • Cord trauma
53
Q

How may syringomyelia present?

A

Onset often sudden after being static for years at around age 30 e.g on coughing or sneezing as increase pressure causes extension of syrinx

- Bilateral sensory loss: of pain and temperature but preserved others, usually over trunk and shoulders

- Wasting/weakness of hands: can lead to claw hand

- Horners syndrome: can be bilateral so difficult to see

- UMN leg signs

- Charcot’s joints: as lost proprioception

54
Q

What is syringobulbia?

A

Brainstem involvement of syrinx

  • Nystagmus
  • Tongue atrophy
  • Dysphagia
  • Pharyngeal weakness
  • CNV sensory loss
55
Q

How is syringomyelia investigated and managed?

A

Ix

- MRI: look for Chiari malformation, how big is syrinx

Mx

  • Chiari Malformation: Decompression at Foramen Magnum to promote flow of CSF and prevent syrinx dilation
  • Drain syrinx surgically
56
Q

What is hypoxic ischaemic encephalopathy and what is the cause of this?

A

Brain damage from ante or perinatal hypoxia

Ischaemia results in irreversible brain damage, both from primary neuronal death (immediate) and secondary reperfusion injury (delayed).

Causes: placental abruption, cord compression during delivery, failure to breathe on delivery

57
Q

How may Hypoxic ischaemic encephalopathy present in a neonate?

A

Depends on severity of hypoxia

- Mild: irritability

- Severe: hypotonia, prolonged seizures, poor responses

58
Q

How is HIE diagnosed and managed?

A

Ix

  • EEG monitoring

Mx

  • Respiratory support
  • Anticonvulsant therapy
  • Fluid balance ad electrolyte monitoring and inotropes.
  • Induce mild hypothermia to prevent further damage by secondary reperfusion injury
59
Q

What is the prognosis with HIE?

A
  • Cerebral palsy
  • Death
  • Cognitive impairment

Assess degree of damage with MRI

60
Q

What is neurofibromatosis?

A

Genetic condition that causes nerve cell tumours (neuromas) to form throughout the nervous system

Tumours are benign but cause neurological and structural issues

61
Q

What is type 1 neurofibromatosis and how does it present?

A

Autosomal dominant NF1 gene on Chromosome 17 that codes for neurofibromin which is a tumour suppressor

At least 2 of 7 of CRABBING:

C – Café-au-lait spots (6 or more) measuring ≥ 5mm in children or ≥ 15mm in adults

R – Relative with NF1

A – Axillary or inguinal freckles

BB – Bony dysplasia such as Bowing of a long bone or sphenoid wing dysplasia

I – Iris hamartomas (Lisch nodules) (2 or more) are yellow brown spots on the iris

N – Neurofibromas (2 or more)

G – Glioma of the optic nerve

62
Q

How is type 1 neurofibromatosis (Von Recklinghausen’s disease) investigated and managed?

A

Ix

  • PURELY CLINICAL
  • Genetic testing if doubt
  • CT MRI if concerned about lesions in cord or brain

Mx

  • Yearly cutaneous survery and measurement of BP
  • Dermal neurofibromas can be excised if troublesome
  • Geneti counselling
  • No cure
63
Q

What are some complications of type 1 neurofibromatosis?

A
  • Learning diability
  • GI bleeds
  • Epilepsy
  • Sarcoma
64
Q

What is type 2 neurofibromatosis and how does it present?

A

Autosomal dominant NF2 gene on chromosome 22. Merlin protein that supresses schwann cell growth so NF2 causes schwanommas

  • Cafe au lait spots
  • Bilateral acoustic neuromas (tinnitus, vertigo, sensorineural hearing loss)

SENSORINEURAL HEARING LOSS OFTEN FIRST SIGN

65
Q

How is type 2 neurofibromatosis investigated and managed?

A

Ix

  • MRI

Mx

  • Hearing tests yearly from puberty in affected families. If abnormality do MRI
  • Neurosurgical removal of vestibular schwannoma but risk of hearing los and facial palsy
66
Q

What is the pathophysiology of Lambert-Eaton syndrome?

A

Similar features to myasthenia gravis

Autoimmune or Paraneoplastic (Small Cell Lung Cancer)

Antibodies to Voltage-Gated Ca channels on pre-synaptic membrane so impaired influx of calcium so Ach not released

67
Q

How may Lambert Eaton syndrome present?

A
  • Symptoms develop slowly (gait first then eyes)

- Proximal muscle weakness (usually legs)

  • Intraocular muscles affected causing diplopia, the levator muscles in the eyelid causing ptosis
  • Oropharyngeal muscles causing slurred speech and dysphagia

- Autonomic dysfunction (dry mouth, blurred vision, impotence, dizziness)

- Hyporeflexia which improves after exercise (post-tetanic potentiation)

68
Q

How is Lambert Eaton syndrome investigated?

A

- EMG: similar to MG but amplitude increases post-exercise

- Bloods for anti-voltage-gated calcium channels

- CXR and CT chest: rule of SCLC

69
Q

How is Lambert Eaton syndrome managed?

A

Manage underlying cause

- Amifampridine: blocks voltage-gated potassium channels in the presynaptic cells, which in turn prolongs the depolarisation of the cell membrane allowing Ach to be released

- IV Immunoglobulin or Plasmapheresis: if severe respiratory impairment or bulbar weakness

- Do regular CXR/High Resolution CT as symptoms may precede cancer by 4 years

70
Q

What is idiopathic intracranial hypertension?

A

Disorder characterised by features of raised ICP (LP opening pressure >25) but no mass causing this raised ICP

Clinical Features: headache, papilloedema and visual loss

71
Q

What are some risk factors and associated conditions for IIH?

A

Risk Factors

  • Female
  • Obese
  • Reproductive age

Associations

  • Drugs: COCP, steroids, Vitamin A, Lithium, Tetracyclines
  • Sleep apnea
  • PCOS
  • SLE
  • Cushing’s
  • Hypoparathyroidism
72
Q

The cause of IIH is unknown, what are some of the theories about how this disease occurs?

A

- Intracranial venous hypertension: due to venous sinus narrowing/stenosis

- Raised intra-abdominal pressure from central obesity: felt to increase central venous pressure and subsequently leads to an increase in ICP

- Altered sodium and water retention

- Impaired CSF reabsorption: occurring secondary to excess vitamin A

73
Q

What are the signs and symptoms of idiopathic intracranial hypertension?

A

Symptoms

  • Raised ICP headache (e.g worse on bending down)
  • Transient visual loss
  • Diplopia and blurred vision
  • Pain behind eyes

Signs

  • CN6 Abducens palsy
  • Papilloedema
  • Peripheral visual field loss and large blind spot
74
Q

What investigations are done to get to a diagnosis of idiopathic intracranial hypertension?

A

- BP: due to headache

- Pregnancy test

- Opthalmoscopy: papilloedema

- LP: with raised opening pressure, check no CI

- Neuroimaging: rule out other causes preferabbly MRV

Differentials: SOL, venous sinus thrombosis, obstructive hydrocephalus, decreased CSF production, increased CSF production

75
Q

How is IIH managed?

A

Conservative

- Weight loss

Medical

- Acetazolamide (poor SE not often tolerated e.g peripheral paraesthesia, anorexia and metallic dysgeusia)

  • Furosemide or Topiramate

Surgical

- Repeated Therapeutic LPs: if medical therapy not tolerated

- Optic nerve sheath fenestration: if prominent visual symptoms

- Shunting: ventriculoperitoneal, lumbarperitoneal

76
Q

What is the prognosis with IIH?

A
  • Recurrence in a third of patient
  • Risk of permanent visual loss
77
Q
A