Neuro-ophthalmologic manifestations of rheumatologic and associated disorders

Inflammatory diseases affecting the eye, the orbital content, or the endocranium are various. The clinical or radiologic presentation are multiple and their diagnosis can be a real challenge. Most relevant studies or case reports on systemic lupus erythematosus, Wegener's granulomatosis, Churg-Strauss syndrome, giant cell arteritis, Behcet's disease, Takayasu's arteritis, relapsing polychondritis, or inflammatory pseudotumor of the orbit are summarized in the present review

Hallucinations et illusions visuelles, des symptomes souvent meconnus du praticien. [Visual hallucinations and illusions, symptoms frequently misdiagnosed by the practitioner]

INTRODUCTION: Visual hallucinations or illusions are not a rare symptom. However, they are often unrecognized. Unawareness of the meaning of these symptoms often mislead both the patient and his physician. PURPOSE: To define and describe the types of visual illusions and hallucinations which can be commonly encountered in neuro-ophthalmological practice. METHODS: Overview article. RESULTS: Hallucinations are a perception not based on sensory input, whereas illusions are a misinterpretation of a correct sensory input. Both phenomenon can be due to medication or drug, or to an altered mental status. Visual hallucinations can be formed (objects, people) or unformed (light, geometric figures). They can be generated either by a lesion on the antechiasmatic pathway, by a seizure phenomenon, by a migrainous phenomenon, or by a release phenomenon secondary to visual differentiation. Investigations will be directed towards a retinopathy, an optic neuropathy, a chiasmal or retrochiasmal lesion, or a bilateral antechiasmal lesion (Charles Bonnet syndrome). Visual illusions include meta-morphopsias, micro- macropsias, polyopia, palinopsia (visual perseveration), achromatopsia, Pulfrich phenomenon, or subjective vertical deviation. Illusions can be due to lesions of the retina, the optic nerve, the visual cortex (primary or associative), or the graviceptive pathways. CONCLUSIONS: As most patients do not spontaneously mention their symptoms, history taking is essential. The first step is to rule out medication or an altered mental status as the possible cause of these symptoms. Then, careful visual function examination should provide a good insight in the location of the lesion

Spasm of accommodation in a patient with increased intracranial pressure and pineal cyst

BACKGROUND: In the setting of a normal neurological examination, accommodation spasm is frequently attributed to a non-organic etiology. Occasionally, organic disorders are associated. In particular, central lesions involving the dorsal midbrain and quadrigeminal plate have been described with disorders of accommodation. HISTORY AND SIGNS: A 36-year-old woman with idiopathic intracranial hypertension (IIH) had visual blur from pseudo-myopia due to accommodative spasm. Magnetic resonance imaging (MRI) revealed a pineal cyst that was reported to be an incidental finding. The patient had persistent papilledema and recurrent episodes of unilateral and bilateral visual blur from accommodative spasm despite medical management. THERAPY AND OUTCOME: A lumboperitoneal shunt effectively lowered her intracranial pressure (ICP). Thereafter, all symptoms of increased ICP, accommodative spasm and papilledema resolved. A functional, non-organic cause for accommodation spasm was not suspected. CONCLUSIONS: To our knowledge, this is the first report of isolated accommodative spasm as a presenting symptom in a patient with IIH. The patient's accommodative spasm resolved with lowering of the ICP. It remains speculative whether her pineal cyst played a role in triggering the accommodative spasm

Optic nerve massaging: an extremely rare cause of self-inflicted blindness

PURPOSE: To report a patient whose self-inflicted blindness was not clinically apparent by history or external signs of trauma. DESIGN: Observational case report. METHODS: A 12-year-old girl with a history of social and behavioral problems was noted to have visual loss in her right eye. Examination revealed no light perception, optic nerve atrophy, partial upper lid ptosis, exotropia, and hypoesthesia of the cheek, all on her right side. RESULTS: After undergoing extensive examinations which were unrevealing for a diagnosis, the patient admitted to a recurrent maneuver, which she secretly used to relieve anxiety and stress. This maneuver consisted of inserting her index finger under the right supraorbital rim and forcibly subluxating her globe out of the orbital space. CONCLUSIONS: Self-inflicted visual loss can occur in nonpsychotic and nonviolent patients. Accurate diagnosis is important, as there is a risk of similar involvement to the fellow eye, and referral for psychiatric counseling is mandatory

An unusual presentation of herpes zoster ophthalmicus: orbital myositis preceding vesicular eruption

PURPOSE: To present a case of orbital myositis associated with herpes zoster ophthalmicus. DESIGN: Observational case report. METHODS: A 47-year-old woman with acute retrobulbar eye pain and diplopia preceding the vesicular rash of herpes zoster ophthalmicus was evaluated and treated. RESULTS: Magnetic resonance imaging showed enlargement and enhancement of extraocular muscles consistent with an inflammatory myopathy. Following acyclovir and prednisone treatment, all symptoms resolved, and neuralgia did not develop. CONCLUSIONS: Herpes zoster may cause symptoms and signs of orbital myositis before eruption of cutaneous skin lesions and thus should be considered in the differential diagnosis of an acute orbital myositis

Evaluation d’une anisocorie et exemples de cas cliniques

L'anisocorie est une anomalie pupillaire fréquemment rencontrée en pratique clinique. Elle peut être physiologique, s'inscrire dans le cadre d'une atteinte oculaire, d'une paralysie pharmacologique, ou encore dans le cadre d'une maladie neurologique. Le but de cet article est de fournir au lecteur une approche systématique de ce problème qui lui permettra de déterminer dans la majorité des cas le mécanisme aboutissant à cette anisocorie

Amelioration rapide de la fonction visuelle apres perte visuelle aigue secondaire a une neuropathie optique de Leber. [Rapid onset of visual recovery following acute visual loss due to leber's hereditary optic neuropathy]

INTRODUCTION: Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder affecting the optic nerves in which the typical clinical presentation is subacute, painless, sequential visual loss in young adult males. Patients with LHON who have atypical clinical features may be initially misdiagnosed. OBSERVATION: An 8-year-old boy developed an acute severe bilateral optic neuropathy associated with pain and mild optic disc edema. Molecular genetic testing of his mitochondrial DNA revealed two point mutations, T14484C and G15257A. His vision began to improve within one month of onset of visual loss and eventually recovered to 20/15 in both eyes. Four years previously, his oldest sister had acutely lost vision in both eyes at age 12 years. Her young age, female gender, the bilateral visual loss associated with pain, optic disc edema, absent family history of visual loss and negative workup were felt to be most consistent with a clinical diagnosis of idiopathic optic neuritis of childhood. Her visual recovery which began within two months of visual loss further supported the diagnosis. She was retrospectively re-diagnosed with LHON after her younger brother was genetically confirmed. CONCLUSION: We describe two siblings with LHON whose time course from onset of visual loss to onset of visual recovery was unusually rapid. Because of other atypical features for LHON such as their young age at presentation, bilateral simultaneous visual loss and associated periorbital pain, their clinical profile appeared more typical of a demyelinating disease such as childhood optic neuritis. The first affected sibling (sister) was initially misdiagnosed. This report emphasizes that the clinical spectrum of LHON is variable and thus, LHON should be considered in any patient with an acute bilateral optic neuropathy, even in the absence of a positive family history. Correct diagnosis of this maternally inherited disorder is important for assessment of visual prognosis and appropriate genetic counseling

False negative apraclonidine test in two patients with Horner syndrome

BACKGROUND: Because of denervation supersensitivity, a miotic pupil in a sympathetically-denervated eye dilates in response to a dilute or weak alpha-1-agonist drug. A reversal of anisocoria after topical apraclonidine is considered as a positive test result that diagnoses a unilateral Horner syndrome. HISTORY AND SIGNS: Two women aged 34 and 46 years with a cocaine-confirmed oculosympathetic defect (Horner syndrome) were tested with 1 % topical apraclonidine on separate days. THERAPY AND OUTCOME: In one patient, her miotic Horner pupil dilated marginally but not enough to reverse the baseline anisocoria. Additionally, the upper lid on the same side retracted. There was no discernable effect of apraclonidine on the normal, contralateral eye. In the second patient, there was no pupillary response to apraclonidine but there was resolution of her ptosis. CONCLUSIONS: Neither patient demonstrated a reversal of anisocoria, the current criterion for diagnosing a Horner syndrome using apraclonidine. Thus, these two patients with an established oculosympathetic defect were said to have a "negative test" for Horner syndrome. Yet both women showed subtle pupil and/or lid changes in response to apraclonidine that were consistent with sympathetic denervation supersensitivity. Reversal of anisocoria following topical apraclonidine does not occur in all patients with a unilateral oculosympathetic defect and more specific parameters for defining a positive test result might optimize apraclonidine's utility as a diagnostic test for Horner syndrom