Neurosarcoidosis is a rare complication of sarcoidosis and typically presents as acute cranial neuropathies. Neurosarcoidosis can rarely cause an inflammatory optic neuropathy, resembles an optic neuritis and even more rarely can cause an optic perineuritis. Although concomitant optic neuritis and optic perineuritis have been reported in other inflammatory conditions, such as myelin oligodendrocyte antibody-Associated disease, spatially-distinct optic neuritis, and optic perineuritis has not been previously described in neurosarcoidosis. Here, we present a case of spatially-distinct concomitant optic neuritis and optic perineuritis from neurosarcoidosis in a 51-year-old man initially suspected to harbor metastatic disease based on imaging findings.
by
David J Calkins;
Patrick Yu-Wai-Man;
Nancy Newman;
Magali Taiel;
Pramila Singh;
Clémentine Chalmey;
Alexandra Rogue;
Valerio Carelli;
Philippe Ancian;
José A Sahel
Lenadogene nolparvovec (Lumevoq) gene therapy was developed to treat Leber hereditary optic neuropathy (LHON) caused by the m.11778G > A in MT-ND4 that affects complex I of the mitochondrial respiratory chain. Lenadogene nolparvovec is a replication-defective, single-stranded DNA recombinant adeno-associated virus vector 2 serotype 2, containing a codon-optimized complementary DNA encoding the human wild-type MT-ND4 subunit protein. Lenadogene nolparvovec was administered by unilateral intravitreal injection in MT-ND4 LHON patients in two randomized, double-masked, and sham-controlled phase III clinical trials (REVERSE and RESCUE), resulting in bilateral improvement of visual acuity. These and other earlier results suggest that lenadogene nolparvovec may travel from the treated to the untreated eye. To investigate this possibility further, lenadogene nolparvovec was unilaterally injected into the vitreous body of the right eye of healthy, nonhuman primates. Viral vector DNA was quantifiable in all eye and optic nerve tissues of the injected eye and was detected at lower levels in some tissues of the contralateral, noninjected eye, and optic projections, at 3 and 6 months after injection. The results suggest that lenadogene nolparvovec transfers from the injected to the noninjected eye, thus providing a potential explanation for the bilateral improvement of visual function observed in the LHON patients.
Perineural spread (PNS) to cranial nerves (CNs) by cutaneous malignancies is difficult to diagnose given the indolent course and often late or absent findings on brain imaging. A 68-year-old white man with multiple cranial neuropathies secondary to PNS by squamous cell carcinoma had negative high-quality neuroimaging for 5.25 years. He first developed left facial numbness, followed 39 months later by a left CN VI palsy. Subsequent examinations over 2 years showed involvement of left seventh, right trigeminal V1-V3, and right sixth, and bilateral third nerve palsies. Repeat high-quality brain magnetic resonance imaging (MRIs) during this time showed no identifiable CNs abnormality. Full body positron emission tomography imaging and cerebrospinal fluid studies were normal. 5.25 years after initial sensory symptom onset, MRI showed new enhancement along the right mandibular branch of the trigeminal nerve with foramen ovale widening. Autopsy showed squamous cell carcinoma within both CNs sixth. A long interval to diagnosis of PNS is associated with high morbidity, emphasizing the need for earlier methods of detection when clinical suspicion is high.
Inner retinal thinning on optical coherence tomography (OCT) occurring through retrograde trans-synaptic degeneration is an increasingly recognized phenomenon, even in acquired retro-chiasmal brain lesions. We describe a man with stable visual field defects from multiple bilateral posterior circulation infarctions, who had ganglion cell complex (GCC) thinning on macular OCT that corresponded precisely with his visual field defects. In contrast to previous reports indicating that peripapillary retinal nerve fiber layer (RNFL) changes are important in detecting this phenomenon, the peripapillary RFNL thickness and the optic disc appearance of our patient were relatively unaffected. Our case contributes to the growing body of evidence that retrograde trans-synaptic degeneration can manifest as isolated macular OCT findings.
PURPOSE OF REVIEW: The purpose of this study is to review commonly encountered adverse ocular effects of illicit drug use. RECENT FINDINGS: Drug and alcohol abuse can produce a variety of ocular and neuro-ophthalmic side effects. Novel, so-called 'designer', drugs of abuse can lead to unusual ocular disorders. Legal substances, when used in manners for which they have not been prescribed, can also have devastating ophthalmic consequences. SUMMARY: In this review, we will systematically evaluate each part of the visual pathways and discuss how individual drugs may affect them.
We were honored last year to have been invited by the Taiwan Ophthalmological Society as their guests at the 60th Anniversary Meeting, an extraordinary professional, academic, intellectual and social event. We were doubly honored when we were asked by the Editor-In-Chief David Hui-Kang Ma and his Editorial Board of the Taiwan Journal of Ophthalmology to co-edit this special edition in the journal on neuro-ophthalmologic topics. Neuro-ophthalmology has always been an essential part of the training of every ophthalmologist worldwide. Irrespective of how specialized an ophthalmologist becomes in even the most tiny of portions of the eye, there can always be a neuro-ophthalmologic cause lurking behind a patient's seemingly straightforward presentation. Ophthalmologists are skilled in direct inspection of the eye and are used to actually seeing pathology rather than inferring it. Not seeing does not mean not knowing, however, and ophthalmologists can overcome their concerns by remembering their training in neuro-ophthalmology and continuing to refresh their education throughout their careers. Indeed, every ophthalmologist should be not only comfortable but also interested in that part of the visual system that lets the eye do what it needs to do so well.
Idiopathic intracranial hypertension (IIH) is a disorder of unknown etiology that results in isolated raised intracranial pressure. Classic symptoms and signs of IIH include headache, papilledema, diplopia from sixth nerve palsy and divergence insufficiency, and pulsatile tinnitus. Atypical presentations include: (1) highly asymmetric or even unilateral papilledema, and IIH without papilledema; (2) ocular motor disturbances from third nerve palsy, fourth nerve palsy, internuclear ophthalmoplegia, diffuse ophthalmoplegia, and skew deviation; (3) olfactory dysfunction; (4) trigeminal nerve dysfunction; (5) facial nerve dysfunction; (6) hearing loss and vestibular dysfunction; (7) lower cranial nerve dysfunction including deviated uvula, torticollis, and tongue weakness; (8) spontaneous skull base cerebrospinal fluid leak; and (9) seizures. Although atypical findings should raise a red flag and prompt further investigation for an alternative etiology, clinicians should be familiar with these unusual presentations.
PURPOSE: The purpose of this study was to evaluate whether papilledema severity is associated with specific demographic or clinical factors in patients with idiopathic intracranial hypertension (IIH). MATERIALS AND METHODS: A retrospective cohort study of consecutive IIH patients seen at one tertiary care institution between 1989 and March 31, 2017 was performed. IIH patients were classified as mild (Frisén Grade 1 or 2) or severe (Frisén Grade 4 or 5) based on grading of fundus photographs obtained at first presentation. Demographic and clinical variables including age, body mass index (BMI), gender, visual acuity, Humphrey visual field mean deviation, and cerebrospinal fluid (CSF) opening pressure were extracted from patient medical records for statistical analyses. RESULTS: A total of 239 patients were included in the study: 152 with mild papilledema and 87 with severe papilledema. There was no difference in age, race, BMI, or male gender between the mild and severe papilledema groups. CSF opening pressure was significantly higher in the severe papilledema group (41.89 cm of water vs. 33.69, 95% confidence interval [CI]:-10.79-5.62, P < 0.0001). There was a significant difference in the Humphrey mean deviation (-6.38 dB compared to-3.25 dB, 95% CI:-4.82-1.44 dB, P < 0.001) and average logarithm of the minimum angle of resolution visual acuity at final follow-up (0.21 vs. 0.045, 95% CI:-0.299-0.040, P = 0.01). CONCLUSION: Age, race, sex, and BMI were similar in IIH patients with mild versus severe papilledema, emphasizing the importance of a dilated fundus examination to reliably stratify patients. Patients with severe papilledema are at higher risk of visual acuity and visual field loss at final follow-up.
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R. J. Blanch;
C. Vasseneix;
A. Liczkowski;
A. Yiangou;
A. Aojula;
J. A. Micieli;
S. P. Mollan;
Nancy Newman;
Valerie Biousse;
Beau Bruce;
A. Sinclair
Aim:
Demographic factors potentially influencing the presentation and severity of idiopathic intracranial hypertension (IIH) in the US vs. UK populations include obesity and ethnicity. We aimed to compare the presenting features of IIH between populations in the UK and US tertiary referral centres, to assess what population differences exist and whether these cause different presentations and impact on visual function.
Methods:
Clinical data were collected on 243 consecutive UK IIH patients and 469 consecutive US IIH patients seen after 2012 in two tertiary centres. Visual function was defined as severe visual loss when Humphrey visual field mean deviation was <−15 dB, when Goldmann visual fields showed constriction or when visual acuity was <20/200.
Results:
US patients were more commonly of self-reported black race (58.9% vs. 7.1%) than UK patients, but had a similar mean body mass index (38.3 ± 0.63kg/m2 UK vs. 37.7 ± 0.42kg/m2 US; p = 0.626). The UK cohort had lower presenting Frisén grade (median 1 vs. 2; p < 0.001) and severe visual loss less frequently (15.4% vs. 5%; p = 0.014), but there was no difference in mean cerebrospinal fluid-opening pressure (CSF-OP) (35.8 ± 0.88cmH2O UK vs. 36.3 ± 0.52cmH2O US; p = 0.582). African Americans had poorer visual outcomes compared with US whites (19.4% vs. 10% severe visual loss; p = 0.011). Visual function was weakly associated with CSF-OP (R2 = 0.059; p = 0.001), which was similar between UK and US patients.
Conclusions:
The UK and the US cohorts had a similar average presenting BMI. However, the worse presenting visual function in the US IIH cohort was partially attributable to differences in the black populations in the two countries.
Acute retinal vascular occlusions are common causes of visual impairment. Although both retinal artery occlusions and retinal vein occlusions are associated with increased age and cardiovascular risk factors, their pathophysiology, systemic implications, and management differ substantially. Acute management of retinal artery occlusions involves a multidisciplinary approach including neurologists with stroke expertise, whereas treatment of retinal vein occlusions is provided by ophthalmologists. Optimisation of systemic risk factors by patients’ primary care providers is an important component of the management of these two disorders.