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Neuro-ophthalmology is a field that combines neurology with ophthalmology. There are numerous common pathologies of the eye that are relevant to the neurologist and must not be missed. These pathologies include, but are not limited to, the following:
Image by Sam Shlomo Spaeth, courtesy of Medscape.
A 55-year-old hypertensive man presents to the emergency department (ED) with a history of sudden onset of dysphagia, dysarthria, and gait ataxia. On examination, the patient has a Glasgow Coma Scale (GCS) score of 15/15. His speech is dysarthric with a nasal twang. He also has Horner syndrome, CN IX and X palsy, and cerebellar signs on the right side. He has "crossed" sensory loss of pain and temperature sensation on the right side of the face and the left side of the body. Magnetic resonance imaging (MRI) of the brain shows an infarct on the right side of the medulla (see the following slide).
Which of the following is the most likely diagnosis?
Image courtesy of Medscape.
Answer: B. Wallenberg syndrome.
Wallenberg syndrome, also known as lateral medullary syndrome, results from involvement of the lateral medulla (usually by ischemic stroke) and gives rise to a characteristic clinical signature.[1] Patients present with dysphagia and dysarthria as a consequence of involvement of the nucleus ambiguus and vertigo caused by damage to the vestibular nuclei. Involvement of the spinal trigeminal nucleus leads to absence of pain on the ipsilateral side of the face, whereas damage to the spinothalamic tract results in loss of pain and temperature sensation on the opposite side of the body, producing the typical "crossed" sensory loss. The inferior cerebellar peduncle involvement causes ataxia. Horner syndrome results from damage to the hypothalamospinal fibers of the sympathetic nervous system. The T2-weighted MRI brain scan in the slide shows a hyperintense signal in the right lateral medulla (arrow).
Image courtesy of Medscape.
A 45-year-old Pakistani man presents to the ED with a 20-day history of sudden, severe, sharp retro-orbital pain on the left side, followed 2 days later by diplopia in all directions of gaze without visual loss and tingling on the upper half of the left side of the face. After another 2 days, drooping of both eyelids developed. On clinical examination, the patient's GCS is 15/15. Ocular examination reveals bilateral partial ptosis with ophthalmoparesis. There is no lid swelling, proptosis, or chemosis. Pupillary size and reaction are normal. Visual acuity is also intact in both eyes. Funduscopic examination reveals normal discs. Facial sensory loss is detected in the distribution of CN VI on the left side; the remaining cranial nerves are intact and symmetric. There are no signs of meningeal irritation, pyramidal weakness, or cerebellar dysfunction. Laboratory analysis demonstrates a normal complete blood count (CBC) and erythrocyte sedimentation rate (ESR). Liver function tests, renal function tests, serum glucose levels, electrocardiography (ECG), and chest radiography are unremarkable. Test results for antinuclear antibody (ANA), extractable nuclear antigen (ENA) profile, HIV serology, hepatitis B s antigen (HBsAg), and antibody to hepatitis C virus (HCV) are negative. Serum angiotensin-converting enzyme (ACE) levels are normal. Thyroid function test results are normal. Routine examination of cerebrospinal fluid (CSF) also yields normal findings. MRI of the brain and orbit shows a normal cavernous sinus, normal brain parenchyma, and normal orbital contents (see the following slide).
Which of the following is the most likely diagnosis?
Image courtesy of Umair Hassan.
Answer: D. Tolosa-Hunt syndrome.
THS is a rare disorder characterized by recurrent and relapsing painful ophthalmoplegia caused by nonspecific inflammation of the cavernous sinus or superior orbital fissure.[2] It manifests as recurrent episodes of retro-orbital, periorbital, or hemicranial pain, along with ocular motor nerve palsies (ie, involving CN III, CN IV, and CN VI). Oculosympathetic paralysis and sensory loss in the distribution of the ophthalmic division—and, occasionally, the maxillary division—of the trigeminal nerve may also be observed, occurring in various combinations. Neuroimaging with contrast-enhanced MRI in multiple views, particularly coronal sections, should be the initial diagnostic study performed. In some patients with THS, an area of abnormal soft tissue in the region of the cavernous sinus is visualized. Abnormal convexity of the wall of the cavernous sinus may be seen. There may be focal narrowing of the intracavernous internal carotid artery. The major limitation of MRI findings in THS is their lack of specificity. At times, MRI may even yield normal findings, as is the case with this patient, in whom the cavernous sinus, brain parenchyma, and orbital contents (arrows) all appear normal on T2-weighted imaging (T2WI) of the brain and orbit and no orbital or intracranial mass lesion is seen.
THS is a self-limited illness. Clinically, immediate response to steroid therapy is a hallmark of the condition. Administration of systemic steroids for 48 hours produces a dramatic response in the painful ophthalmoplegia of THS that allows differentiation of this condition from other conditions associated with painful ophthalmoplegia. For refractory cases, azathioprine, methotrexate, or radiation therapy may be employed. Surgical intervention is reserved for cases where histopathologic evidence is required.
Image courtesy of Sumaira Nabi, MBBS, FCPS.
A 53-year-old Pakistani man presents with a 6-month history of diffuse headache and a 1-month history of blurring of vision. On ocular examination, the patient's visual acuity (measured in meters [6/6] rather than feet as in the United States [20/20]) is 6/12 in the left eye and 6/24 in the right. Examination of the visual field by means of Goldmann perimetry reveals bitemporal hemianopia (shown). MRI shows a rounded mass around the sella, which is isointense on both T1-weighted imaging (T1WI) and T2WI and enhances with gadolinium (see the following slide).
Which of the following is the most likely diagnosis?
Image courtesy of Wikimedia Commons.
Answer: B. Pituitary adenoma.
Pituitary tumors normally grow with upward extension, being contained within the tight bony sella. Stretching of the diaphragma sellae irritates pain-sensitive nerves and produces headache. With further enlargement, the optic chiasm is compressed, and the classical visual field defects of superior quadrantanopia followed by bitemporal hemianopia are observed.[3] Brain MRI with contrast is the imaging technique of choice for the pituitary gland. Adenomas appear iso- to hypointense on T1WI and iso- to hyperintense on T2WI and enhance with gadolinium contrast. The image in the slide shows a rounded mass around the sella that enhances with gadolinium (arrows); hydrocephalus is also seen.
In general, patients with most types of pituitary adenomas are treated surgically, whereas most patients with prolactinomas are treated medically (dopamine agonists), with surgery offered if dopamine agonists prove ineffective.
Image courtesy of Shahzad Ahmed, MBBS.
A 45-year-old Pakistani man presents to the ED with a 2-month history of acute weakness of all extremities associated with bladder dysfunction. Six months previously, the patient had experienced visual loss in the right eye. On physical examination, visual acuity in the right eye is reduced to counting fingers only, whereas visual acuity in the left eye is 6/12. The patient also has a relative afferent pupillary defect on the right side with optic atrophy on funduscopic examination. Funduscopy of the left eye (shown) reveals mild disc pallor. The patient has a spastic weakness of all four limbs with a power of 0/5 in the lower limbs and a power of 3/5 in the upper limbs. Deep tendon reflexes are brisk with bilateral extensor plantar response. Contrast MRI of the cervicothoracic spine reveals patchy abnormal signals extending from the level of the C2-3 intervertebral disc to the T6-7 intervertebral disc; signals are low-intensity on T1WI and high-intensity on T2WI and fluid-attenuated inversion recovery (FLAIR) sequences, with inhomogeneous postcontrast enhancement.
Which of the following is the most likely diagnosis?
Image courtesy of Sumaira Nabi, MBBS, FCPS.
Answer: D. Neuromyelitis optica (NMO).
NMO, also known as Devic syndrome or disease, is an idiopathic inflammatory demyelinating disease that is specific to the spinal cord and optic nerves and results in acute attacks of severe myelitis and acute or subacute unilateral or bilateral optic neuritis.[4] MRI of the spine typically reveals longitudinally extensive transverse myelitis with lesions extending over three or more vertebral segments. These necrotizing and cavitating lesions are predominantly located in the cervical and thoracic cord (arrows) and are hypointense on T1WI and hyperintense on T2WI and FLAIR sequences. Cord swelling and gadolinium enhancement are seen in acute cord lesions. Initial treatment of acute attacks of optic neuritis or myelitis consists primarily of high-dose intravenous (IV) corticosteroid therapy. Plasmapheresis (1-1.5 L plasma volume per exchange) over a period of 2 weeks may be initiated in patients who do not respond to treatment with corticosteroids.
Image courtesy of Sumaira Nabi, MBBS, FCPS.
A 65-year-old man presents with a 6-month history of nonspecific headache and a 1-week history of right-side focal seizures. On examination, the patient has a GCS of 15/15. Funduscopic examination (shown) reveals bilateral papilledema. He also has right-side pyramidal weakness with a power of 4/5 and a positive Babinski sign. Contrast MRI of the brain shows a rounded area of altered signal with mass effect in the left frontal lobe, which is hypointense on T1WI and hyperintense on T2WI and FLAIR sequences with no postcontrast enhancement (see the following slide). This area is surrounded by perilesional edema, and there is significant midline shift with hydrocephalus.
Which of the following is the most likely diagnosis?
Image courtesy of Medscape.
Answer: C. Brain neoplasm.
Brain tumors can be either primary or secondary (due to metastasis).[5] Symptoms typically have an insidious onset and may include headache, vomiting, focal seizures, and focal neurologic deficits. There may be a variety of nonspecific clinical signs. Eye signs seen in brain neoplasms may include papilledema, CN VI palsy, upgaze palsy, and visual field defects. Neuroimaging is diagnostic. Most tumors enhance upon administration of contrast media. Computed tomography (CT) of the brain, MRI of the brain, and magnetic resonance (MR) spectroscopy all may be used for this purpose. The contrast MRI scan in the slide, showing a rounded area of altered signal with mass effect in the left frontal lobe that is hypointense on T1WI and hyperintense on T2WI and FLAIR (arrows), is consistent with infiltrative low-grade astrocytoma. The lesion is surrounded by perilesional edema, and there is significant midline shift with hydrocephalus.
Image courtesy of Umair Hassan.
A 36-year-old Pakistani woman presents to the ED with a 1-month history of painful, rapidly progressing swelling of the right eye with inability to open the right eyelid. On physical examination, the patient is awake and alert but is uncomfortable because of the pain. On ocular examination, she has a complete external ophthalmoplegia on the right side, with moderate proptosis (24 mm axial). There is no chemosis, conjunctival injection, or crusting on the lashes. The globe is mildly tender to palpation. The pupils are reactive to light from 4 mm to 2 mm, with no relative afferent pupillary defect (RAPD). Visual acuity is 6/12 on the right side and 6/6 on the left, with no visual field defects. On funduscopic examination, the disc margins are blurred on the right side. Contrast MRI of the brain and orbit reveals diffuse thickening and swelling of all the extraocular muscles of the right orbit, with involvement of the tendinous insertions (see the following slide). No edematous changes are seen in the muscles; however, the right globe is proptosed. The right optic nerve is normal. The cavernous sinuses and the brain are also normal.
Which of the following is the most likely diagnosis?
Image courtesy of Sumaira Nabi, MBBS, FCPS.
Answer: D. Orbital pseudotumor.
Orbital pseudotumor is the third most common disease of the orbit, after Graves disease and lymphoproliferative diseases.[6] Orbital pseudotumors constitute 8-11% of all orbital tumors. The typical ocular manifestations include pain, proptosis, local swelling, lid edema, conjunctival injection, and erythema; however, diplopia, visual loss, ptosis, and extraocular dysmotility may also occur. Orbital MRI is the single most important diagnostic test. Imaging findings depend on which orbital structures are affected. The lacrimal gland is the most frequently affected structure. When extraocular muscles are involved, the muscle and tendons enlarge, resulting in a tubular configuration that contrasts with the normal tendons of thyroid ophthalmopathy. The images in the slide show thickening and swelling of the extraocular muscles (yellow arrows) of the right orbit, along with proptosis (red arrow).
Corticosteroids are the mainstay of treatment, usually providing rapid regression of symptoms and decreasing the incidence of permanent disability due to sclerosis. More than 75% of patients show dramatic improvement within 24-48 hours after the initiation of treatment. Improvement with corticosteroid therapy is of diagnostic significance.
Image courtesy of Sumaira Nabi, MBBS, FCPS.
A 55-year-old man presents with sudden-onset partial ptosis on the left side with diplopia on right lateral gaze. He has no history of headache or vomiting. He has had diabetes for the past 15 years and is on insulin therapy. On examination, left partial ptosis is noted, with restricted adduction, elevation, and depression of the left eye. The pupils are equal in size and are bilaterally reactive to light. Funduscopic examination reveals grade II diabetic retinopathy. MRI of the brain (FLAIR sequence) reveals periventricular white-matter hyperintensities consistent with chronic microvascular ischemic changes (see the following slide).
Which of the following is the most likely diagnosis?
Image courtesy of Sumaira Nabi, MBBS, FCPS.
Answer: B. Diabetic mononeuropathy.
Diabetes has a wide spectrum of ocular complications. Diabetic retinopathy is the foremost cause of adult-onset blindness. Cranial mononeuropathies are well-documented. The nerves most commonly affected are CN III, CN IV, CN VI, and CN VII.[7] Onset is acute and usually painful. Other focal neurologic deficits are absent. Recovery is spontaneous, typically occurring within 3-6 months. Diabetic third-nerve palsy typically spares the pupil. On the brain MRI scan in the slide, periventricular white-matter hyperintensities (arrows) consistent with chronic microvascular ischemic changes are apparent.
Image courtesy of Sumaira Nabi, MBBS, FCPS.
A 60-year-old man presents with the sudden onset of painful partial ptosis on the right side, with diplopia on left lateral gaze. Examination reveals right partial ptosis with limited elevation, depression, and adduction of the right eye. The pupil is dilated and sluggishly responsive to light. Angiography of intracranial vessels reveals an aneurysm of the posterior communicating artery on the right side (see the following slide).
Which of the following cranial nerves is involved in this case?
Image courtesy of Medscape.
Answer: B. CN III.
CN III innervates the levator palpebrae superioris, as well as the medial, superior, and inferior recti and the inferior oblique muscles.[8] It originates from a nucleus in the midbrain. The majority of the parasympathetic pupilloconstrictor fibers lie in the superficial part of the nerve. Ischemic lesions therefore present with pupillary sparing, as is seen in cases of diabetic mononeuropathy (see slides 14 and 15). Compressive lesions (eg, aneurysms or mass lesions) result in a dilated and unresponsive or partially responsive pupil, as in this patient, who has an aneurysm of the posterior communicating artery on the right side.
Image courtesy of Zephyr | Science Source.
An 18-year-old woman presents with a history of progressive loss of vision, diplopia, and bilateral drooping eyelids. She also has a history of growth retardation and mental slowness. On examination, the patient has bilateral moderate ptosis and restricted eye movements in all cardinal directions of gaze (see the following slide). Visual acuity is markedly reduced, and bilateral pigmentary retinopathy is apparent on funduscopic examination (shown). The rest of the systemic examination is unremarkable. Muscle biopsy reveals ragged red fibers on modified Gomori stain.
Which of the following is the most likely diagnosis?
Image courtesy of Medscape.
Answer: C. Kearns-Sayre syndrome.
Ophthalmoplegia and pigmentary retinopathy are the hallmark ocular findings in Kearns-Sayre syndrome.[9] This patient has bilateral ptosis associated with severely decreased motility in all directions of gaze. Kearns-Sayre syndrome usually manifests before the age of 20 years. It is a genetic disorder characterized by mutations in mitochondrial DNA. A wide range of clinical abnormalities may occur, including endocrine dysfunction, growth retardation, mental slowness, and cardiac conduction defects. Diagnosis is based on molecular genetic testing and skeletal muscle biopsy, which reveals ragged red fibers on modified Gomori stain, as in this patient.
No specific or curative treatment is available for Kearns-Sayre syndrome. Management is mainly directed toward complications such as cardiac and endocrine involvement.
Image courtesy of Medscape.
An 18-year-old Pakistani woman presents with a 4-week history of low-grade fever, headache, and vomiting. On examination, the patient has bilateral CN VI palsy (shown). Signs of meningeal irritation are present. Contrast MRI of the brain reveals hydrocephalus with basal meningeal enhancement (see the following slide). On routine examination of CSF, the white blood cell (WBC) count is 312 with 98% mononuclear cells, the protein level is 481 mg/dL, and the glucose level is 19 mg/dL. CSF india ink stain is negative, and acid-fast bacilli (AFB) smear is positive.
Which of the following is the most likely diagnosis?
Image courtesy of Umair Hassan.
Answer: A. Tuberculous meningitis.
The thick exudate characteristic of tuberculous meningitis leads to CN dysfunction, as seen in this patient. Hydrocephalus results from obstruction of the basilar cisterns by this exudate.[10] The cranial nerves that are more commonly involved in tuberculous meningitis include CN III, CN IV, CN VI, CN VII, CN IX, and CN X. On the contrast MRI brain scan in the slide, hydrocephalus with basal meningeal enhancement (arrows) is apparent.
Image courtesy of Sumaira Nabi, MBBS, FCPS.
A 25-year-old Pakistani man presents to the ED with a 2-week history of gradual-onset painless diplopia in the left lateral gaze. Two years previously, the patient experienced an episode of paraparesis with sphincteric dysfunction, from which he recovered completely in 6 months. On ocular examination, he is unable to adduct the right eye and has nystagmus of the left eye with abduction. Cranial nerves are otherwise intact and symmetric. The patient also has spasticity in both legs with brisk reflexes. Contrast MRI of the brain (T2WI/FLAIR) shows scattered white-matter hyperintensities consistent with MS.
Which of the following is the most likely diagnosis?
Image courtesy of Sumaira Nabi, MBBS, FCPS.
Answer: D. Unilateral internuclear ophthalmoplegia.
INO is one of the ophthalmologic manifestations of neurologic disorders.[11] It is a dysfunction of conjugate horizontal gaze with restriction or loss of adduction in the diseased eye, usually with associated nystagmus in the contralateral abducting eye. The lesion is characteristically localized to the medial longitudinal fasciculus, a structure consisting of interneurons that connect the contralateral medial rectus subnucleus of CN III in the midbrain to the ipsilateral CN VI nucleus/paramedian pontine reticular formation complex in the dorsomedial pons. INO can be unilateral or bilateral. The most common cause of unilateral INO in elderly persons is stroke. In young patients with unilateral or, more commonly, bilateral INO, MS is the most frequently implicated underlying cause. For symptomatic relief of diplopia, eye patches may be prescribed. In patients with MS, high-dose IV steroids may help alleviate symptoms by accelerating the resolution of the causative plaque. The contrast MRI brain scan in the slide (T2/FLAIR) shows scattered white-matter hyperintensities (arrows) consistent with MS.
Image courtesy of Sumaira Nabi, MBBS, FCPS.
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