- •Contents
- •Foreword
- •Preface
- •Acknowledgements
- •1 When ocular disease is mistaken for neurologic disease
- •Double images
- •What important piece of historical information is still missing in this case?
- •Diagnosis: Monocular diplopia due to cataract
- •Headache and bilateral disc edema
- •What test was done and what was the diagnosis?
- •Diagnosis: Malignant hypertension
- •Chronic optic neuropathy
- •Diagnosis: Glaucomatous optic neuropathy
- •Painful mydriasis
- •What clues suggest an alternative diagnosis?
- •Diagnosis: Acute angle closure glaucoma
- •Invisible retinal disease
- •Twinkling scotoma
- •What aspect of this patient’s positive visual phenomenon is highly atypical for migraine?
- •Diagnosis: Acute idiopathic blindspot enlargement
- •Sudden monocular visual loss with normal fundus
- •Hazy night vision
- •Diagnosis: Hypovitaminosis A
- •Swirling vision
- •Diagnosis: Cancer-associated retinopathy
- •Episodic monocular blur
- •FURTHER READING
- •Monocular diplopia
- •Hypertensive retinopathy
- •Twinkling scotoma
- •Central retinal artery occlusion
- •Hypovitaminosis A
- •Cancer-associated retinopathy
- •Corneal decompensation
- •Glaucoma
- •2 When orbital disease is mistaken for neurologic disease
- •Painless vertical diplopia
- •Diagnosis: Euthyroid Graves’ disease
- •Fatigable ptosis
- •How is lid fatigability objectively demonstrated?
- •Diagnosis: Levator dehiscence
- •Painful ptosis and diplopia
- •The investigation thus far has revealed no intracranial pathology. How would you proceed?
- •Painful optic neuropathy
- •Is this patient’s clinical course consistent with a diagnosis of optic neuritis?
- •Diagnosis: Idiopathic optic perineuritis
- •FURTHER READING
- •Orbital examination and restrictive orbitopathy
- •Levator dehiscence
- •Painful ptosis and diplopia
- •Optic perineuritis
- •3 Mistaking congenital anomalies for acquired disease
- •Headaches and elevated discs
- •Are there clues to the correct diagnosis in this case?
- •Diagnosis: Superior segmental hypoplasia
- •Diagnosis: Type I Duane’s syndrome
- •Intermittent vertical diplopia
- •What other causes of fourth nerve palsy should be considered?
- •How would you pursue a diagnosis of congenital fourth nerve palsy in this patient?
- •Diagnosis: Congenital fourth nerve palsy
- •FURTHER READING
- •Pseudopapilledema
- •Superior segmental hypoplasia
- •Duane’s syndrome
- •Congenital superior oblique palsy
- •4 Radiographic errors
- •Ordering the wrong scan
- •Progressive optic neuropathy
- •Is there a problem with the diagnosis of “chronic optic neuritis”?
- •What clinical features in this case suggest the likely mechanism of her chronic optic neuropathy?
- •What additional radiographic evaluation should be obtained?
- •Headache and papilledema
- •Diagnosis: Cerebral venous sinus thrombosis
- •Idiopathic ptosis and miosis
- •Why is the current study incomplete?
- •Diagnosis: Postganglionic Horner syndrome
- •Diagnosis: Internal carotid artery dissection
- •Headache and bilateral third nerve palsy
- •Diagnosis: Pituitary apoplexy
- •Progressive sixth nerve palsy
- •What aspect of this patient’s presentation provides the most compelling diagnostic clue?
- •Diagnosis: Petrous ridge meningioma
- •Midline and bilateral abnormalities
- •Bilateral idiopathic sixth nerve palsy
- •Is a diagnosis of vasculopathic sixth nerve palsy still tenable here?
- •Diagnosis: Clivus tumor
- •Atypical pseudotumor cerebri syndrome
- •What features of this case are atypical for a diagnosis of IIH? What alternative diagnosis should be considered?
- •Diagnosis: Superior sagittal sinus thrombosis
- •Vertical diplopia
- •Diagnosis: Symmetric Graves’ disease
- •FURTHER READING
- •Neuro-imaging
- •Canalicular meningioma
- •Cerebral venous thrombosis
- •Horner syndrome and carotid dissection
- •Chronic sixth nerve palsy
- •Empty sella
- •Low cerebellar tonsils
- •Sphenoid sinus mucocele
- •Dolichoectatic basilar artery
- •FURTHER READING
- •Pseudotumor cerebri syndrome
- •Chiari malformation
- •Sphenoid sinus mucocele
- •Dolichoectatic basilar artery
- •6 Failure of pattern recognition
- •Painful ophthalmoplegia
- •Where is this patient’s lesion?
- •Diagnosis: Tolosa Hunt syndrome
- •Painful ophthalmoplegia and visual loss
- •Diagnosis: Orbital apex syndrome
- •Painless diplopia
- •Diagnosis: Oculomotor nerve palsy with aberrant regeneration
- •Diagnosis: Lateral geniculate body stroke
- •FURTHER READING
- •Painful ophthalmoplegia
- •Orbital apex syndrome
- •Third nerve misdirection
- •Lateral geniculate body
- •Painless central gray spot in a teenager
- •What is the most likely cause of this patient’s neuroretinitis, and how would you test for it?
- •Diagnosis: Neuroretinitis due to cat scratch disease
- •This patient had an additional non-ocular symptom which she did not volunteer because she didn’t think it was relevant to her eye problem, yet this symptom was an important clue to the correct diagnosis. What question should be asked?
- •Bouncing vision
- •What examination techniques can help in the detection of nystagmus when the oscillatory amplitude is particularly small?
- •Diagnosis: Downbeat nystagmus due to Chiari I malformation
- •Diagnosis: Myasthenic pseudo-INO
- •FURTHER READING
- •Neuroretinitis
- •Downbeat nystagmus
- •Diagnosis: Retinitis pigmentosa
- •Diagnosis: Bilateral occipital stroke with macular sparing
- •What simple “bedside” test could be performed to further investigate this patient’s symptom?
- •Diagnosis: Small homonymous scotoma due to occipital stroke
- •Post-cardiac bypass visual loss
- •Is there another possible explanation for this patient’s visual loss, and how would you investigate this alternative mechanism?
- •Diagnosis: Bilateral homonymous hemianopic scotomas secondary to bilateral occipital tip strokes
- •Pseudo-bitemporal defects
- •What is the next step in this patient’s evaluation?
- •Diagnosis: Tilted disc syndrome
- •Diagnosis: Dominant optic atrophy
- •Diagnosis: Rod-cone dystrophy
- •FURTHER READING
- •Tilted disc syndrome
- •Dominant optic atrophy
- •9 Neuro-ophthalmic look-alikes
- •Does his clinical course change your mind about the diagnosis?
- •Acute tonic pupil vs. pharmacologic mydriasis
- •Chronic tonic pupils vs. Argyll Robertson pupils
- •Convergence spasm vs. bilateral sixth nerve palsies
- •What metabolic abnormality can produce this clinical picture?
- •Chronic progressive external ophthalmoplegia vs. progressive supranuclear palsy
- •This combination of horizontal and vertical gaze limitation with slowed saccades could be due to either supranuclear gaze palsy or ocular myopathy. How can we distinguish these two mechanisms?
- •Orbital myositis vs. sixth nerve palsy
- •FURTHER READING
- •Optic neuritis vs. Leber’s hereditary optic neuropathy
- •Acute unilateral mydriasis
- •Light near dissociation
- •Convergence spasm
- •Wernicke’s encephalopathy
- •Progressive supranuclear palsy
- •Sixth nerve palsy vs. orbital myositis
- •10 Over-reliance on negative test results
- •Unexplained visual loss
- •Diagnosis: Pernicious anemia with normal serum B12 level
- •Twinkling after embolic stroke
- •Diagnosis: Digoxin toxicity with therapeutic levels
- •Painless ptosis and diplopia
- •Headache and third nerve palsy
- •What additional test should be obtained?
- •Diagnosis: Aneurysmal third nerve palsy
- •Truly negative neuro-imaging
- •Brainstem syndrome with negative scan
- •Can you localize this patient’s lesion?
- •Homonymous hemianopia with negative neuro-imaging
- •What disease processes would you consider here?
- •Non-dominant parietal lobe syndrome with negative neuro-imaging
- •Can you localize this patient’s problem?
- •Diagnosis: Visual variant of Alzheimer’s disease
- •Progressive third nerve palsy
- •What other investigations might be helpful?
- •Diagnosis: Third nerve palsy secondary to nasopharyngeal carcinoma
- •Upgaze palsy
- •Diagnosis: Shunt malfunction in the absence of ventriculomegaly
- •FURTHER READING
- •Digoxin toxicity
- •Myasthenia
- •Aneurysmal third nerve palsy
- •One-and-a-half syndrome
- •Cortical visual loss with negative neuro-imaging
- •Skull base tumors with negative imaging
- •Shunt failure with negative neuro-imaging
- •11 Over-ordering tests
- •Isolated unilateral mydriasis
- •If an isolated, enlarged and poorly reactive pupil is not a sign of a pCOM aneurysm, what other causes should be considered?
- •Diagnosis: Adie’s tonic pupil
- •Acute unilateral visual loss with disc edema
- •Diagnosis: Non-arteritic anterior ischemic optic neuropathy (NAION)
- •Acute isolated sixth nerve palsy
- •What is the most likely diagnosis and what evaluation would be appropriate?
- •Diagnosis: Vasculopathic cranial mononeuropathy
- •Episodic scintillating scotoma
- •Does this patient need neuro-imaging? An EEG? Other investigation?
- •Diagnosis: Migraine aura
- •Unexplained visual loss
- •What feature in this case suggests nonorganic visual loss? Is additional ancillary testing needed?
- •Diagnosis: Non-organic visual loss
- •FURTHER READING
- •Adie’s tonic pupil
- •Non-arteritic anterior ischemic optic neuropathy
- •Vasculopathic cranial mononeuropathy
- •Migraine
- •Non-organic visual loss
- •12 Management misadventures
- •Management of idiopathic intracranial hypertension
- •Evaluation and treatment of giant cell arteritis
- •Overzealous treatment of blood pressure in NAION
- •Prednisone for demyelinating optic neuritis
- •Over-reliance on pyridostigmine bromide (Mestinon) in ocular myasthenias
- •Failure to provide symptomatic treatment
- •FURTHER READING
- •Idiopathic intracranial hypertension
- •Giant cell arteritis
- •Non-arteritic anterior ischemic optic neuropathy
- •Optic neuritis
- •Ocular myasthenia
- •Nystagmus
- •Index
Preface
This book is a case-based teaching tool, meant to bridge the gap between textbook information and the everyday experience of the clinician “in the trenches”. Our intended audience includes medical students, residents and practitioners in the fields of neurology, ophthalmology, neurosurgery and neuroradiology as well as our colleagues specializing in neuro-ophthalmology.
The level of information provided in these case discussions assumes that the reader has some degree of familiarity with basic anatomic pathways and with the pathophysiology of common neuroophthalmic disorders. There are a number of excellent textbooks that cover this kind of information and the reader is directed to these sources for review and expansion of this information as needed. The case discussions do include a brief review of key points regarding neuroanatomy and physiology when relevant, highlighting those with direct clinical correlation.
The choice of cases is to some extent arbitrary. The book is not meant to be inclusive but rather to illustrate diagnostic principles, trying to focus on those that are a frequent source of confusion or discomfort, especially to the non-ophthalmologist. In each case we try to highlight the specific aspect of the clinical presentation that points to the correct diagnosis, furnished as the “tip” at the end of the case discussion.
Because the text is not organized anatomically or by disease process, certain disorders appear in more than one location. This occurs because of the diverse clinical manifestations of certain
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conditions. For example, the features of an Adie’s pupil when acute (unilateral dilated pupil) are distinct from those when the disorder is chronic (bilateral small poorly reactive pupils). Similarly, the clinical presentations of Leber’s hereditary optic neuropathy and dominant optic atrophy are quite different even though both are forms of hereditary optic nerve disease. These different sections are meant to be complementary. Care has been taken to avoid redundancy or repetition and in each case the reader is directed to the location of the additional information. Each case can stand alone as a complete story, however, and so the book can be read in any order. We hope this format is user-friendly
and would like to think that our readers will find the book “a fun read”.
Although a variety of disorders and different kinds of “pitfalls” are covered, there is a clear recurring theme in these cases, namely the importance of information derived from the history and the physical examination in the diagnosis of neuroophthalmic disease. Advances in modern neuroimaging sometimes create the impression that such “old-fashioned” clinical skills are no longer necessary, that they are an anachronism. These cases illustrate the way in which such clinical skill complements and informs the data that we obtain from ancillary testing.
Acknowledgements
We would like to thank a number of people for their assistance with this book. We are particularly grateful to Yann Leuba for his expert assistance with the figures and to Shelley Wood for many technical aspects of the project. We greatly appreciate the input of Benjamin Kuzma on many aspects of neuro-imaging. Many thanks to our colleagues Francois-Xavier Borruat, Daryel Ellis, Richard Burgett and John Minturn for their very helpful suggestions on selected chapters. Our special thanks go to Jonathan Trobe for his reading of the entire manuscript and offering such nuanced and insightful comments and criticism. Finally, we appreciate the longtime support of Donald Wilson and the Midwest Eye Foundation.
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