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PURPOSE OF REVIEW: Whipple's disease is an infectious cause of uveitis that may present with nonspecific findings of intraocular inflammation, which can precede the development of neurologic symptoms and signs. Whipple's disease, then, may evade consideration in the differential diagnosis for uveitis. RECENT FINDINGS: Molecular tests can be helpful in identifying the presence of Tropheryma whipplei from ocular specimens. The application of metagenomic sequencing for ocular specimens is promising, as it offers the opportunity to identify the pathogen when suspicion for an intraocular infection is high. Whipple's disease demonstrates the ability to abrogate the host immune response, which gives some insight into its pathogenesis. SUMMARY: Whipple's disease should be suspected in patients who have uveitis refractory to anti-inflammatory therapy. Knowledge of this important pathogen can help direct the timely implementation of diagnostic testing.
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Uveítis , Enfermedad de Whipple , Humanos , Antibacterianos/uso terapéutico , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Uveítis/diagnóstico , Uveítis/tratamiento farmacológico , Inflamación/tratamiento farmacológico , Tropheryma/genéticaRESUMEN
BACKGROUND: Assessment of the ocular fundus, traditionally by direct ophthalmoscopy (DO), is essential to evaluate many neurologic diseases. However, the status of DO training in neurology residencies is unknown. We conducted a needs assessment to determine current attitudes, curricula, and gaps in DO training. METHODS: A survey was developed and administered to residents and program directors (PDs) at ACGME accredited neurology residencies in the United States. The survey assessed factors such as current DO curricula, perceived importance of DO, confidence of skills, and need for improvement. Data analysis was performed using the Mann Whitney U test and Fisher Exact Test. RESULTS: Nineteen PDs (11.6%) and 74 (41.1%) residents responded to the survey. 97.1% of residents and 100.0% of PDs believe DO is an important skill to learn. 29.4% of PDs expected graduating residents to have completed > 10 supervised DO exams, while 0.0% of graduating fourth year residents reported doing so (p = 0.03). 35.7% of graduating residents had never correctly identified an abnormal finding on DO. The number of times residents practiced DO unsupervised correlated with increasing confidence in all components of the DO exam (p < 0.05). Residents who felt their program emphasized DO were more likely to perform DO at least once a week compared to residents who did not perceive program emphasis (61.9% vs. 35.0%, p = 0.02) and were more confident in DO (p < 0.05). 66.7% of residents and 42.1% of PDs were not satisfied with current levels of DO training. 96.7% of residents and 78.9% of PDs felt it was important to improve curriculum for DO training. Supervised practice and practice skills sessions were identified as the most helpful interventions to improve DO training. CONCLUSIONS: The vast majority of neurology PDs and residents believe DO is an important skill to learn, are unsatisfied with the current level of DO training, and advocate for improvement in DO curricula. Current DO curricula have limited formal didactic training and supervised practice. The bulk of DO learning occurs through unsupervised practice, which is influenced by motivational factors such as perceived residency emphasis on DO learning.
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Internado y Residencia , Neurología , Humanos , Estados Unidos , Evaluación de Necesidades , Curriculum , Encuestas y Cuestionarios , Neurología/educación , Aprendizaje , Oftalmoscopía , Educación de Postgrado en MedicinaRESUMEN
BACKGROUND: Susac syndrome is a vasculopathy, resulting in the classic triad of branch retinal artery occlusion (BRAO), inner ear ischemia, and brain ischemia. In this retrospective chart review, we characterize fluorescein angiography (FA) findings and other ancillary studies in Susac syndrome, including the appearance of persistent disease activity and the occurrence of new subclinical disease on FA. METHODS: This multicenter, retrospective case series was institutional review board-approved and included patients with the complete triad of Susac syndrome evaluated with FA, contrasted MRI of the brain, and audiometry from 2010 to 2020. The medical records were reviewed for these ancillary tests, along with demographics, symptoms, visual acuity, visual field defects, and findings on fundoscopy. Clinical relapse was defined as any objective evidence of disease activity during the follow-up period after initial induction of clinical quiescence. The main outcome measure was the sensitivity of ancillary testing, including FA, MRI, and audiometry, to detect relapse. RESULTS: Twenty of the 31 (64%) patients had the complete triad of brain, retinal, and vestibulocochlear involvement from Susac syndrome and were included. Median age at diagnosis was 43.5 years (range 21-63), and 14 (70%) were women. Hearing loss occurred in 20 (100%), encephalopathy in 13 (65%), vertigo in 15 (75%), and headaches in 19 (95%) throughout the course of follow-up. Median visual acuity at both onset and final visit was 20/20 in both eyes. Seventeen (85%) had BRAO at baseline, and 10 (50%) experienced subsequent BRAO during follow-up. FA revealed nonspecific leakage from previous arteriolar damage in 20 (100%), including in patients who were otherwise in remission. Of the 11 episodes of disease activity in which all testing modalities were performed, visual field testing/fundoscopy was abnormal in 4 (36.4%), MRI brain in 2 (18.2%), audiogram in 8 (72.7%), and FA in 9 (81.8%). CONCLUSIONS: New leakage on FA is the most sensitive marker of active disease. Persistent leakage represents previous damage, whereas new areas of leakage suggest ongoing disease activity that requires consideration of modifying immunosuppressive therapy.
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Oclusión de la Arteria Retiniana , Síndrome de Susac , Humanos , Femenino , Adulto Joven , Adulto , Persona de Mediana Edad , Masculino , Síndrome de Susac/complicaciones , Síndrome de Susac/diagnóstico , Angiografía con Fluoresceína , Estudios Retrospectivos , Oclusión de la Arteria Retiniana/diagnóstico , Imagen por Resonancia Magnética , Retina , RecurrenciaRESUMEN
BACKGROUND: Eosinophilic meningitis is uncommon and often attributed to infectious causes. CASE PRESENTATION: We describe a case of a 72-year-old man who presented with subacute onset eosinophilic meningitis, vasculitis, and intracranial hypertension with progressive and severe neurologic symptoms. Brain MRI demonstrated multifocal strokes and co-localized right temporo-parieto-occipital vasogenic edema, cortical superficial siderosis, and diffuse leptomeningeal enhancement. He ultimately underwent brain biopsy with immunohistochemical stains for amyloid-ß and Congo red that were extensively positive in the blood vessel walls and in numerous diffuse and neuritic parenchymal confirming a diagnosis of amyloid-ß related angiitis. He was treated with immunosuppression with clinical stabilization. CONCLUSIONS: Amyloid-ß related angiitis is an underrecognized cause of eosinophilic meningitis that can present fulminantly and is typically responsive to immunosuppression. The presence of eosinophils may provide additional clues to the underlying pathophysiology of amyloid-ß related angiitis.
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Meningitis , Vasculitis , Anciano , Péptidos beta-Amiloides , Biopsia , Humanos , Imagen por Resonancia Magnética , Masculino , Meningitis/complicaciones , Meningitis/diagnóstico , Vasculitis/complicaciones , Vasculitis/diagnóstico , Vasculitis/patologíaRESUMEN
ABSTRACT: Giant cell arteritis (GCA) is a life-threatening vasculitis occurring in older adults that can cause blindness by ischemia of the choroid, retina, and optic nerve. We report a case of a patient who presented with "occult" GCA with severe anterior ischemic optic neuropathy affecting both optic nerves, delayed choroidal filling, and a concomitant cilioretinal artery occlusion in the left eye. The retinal territory supplied by the affected cilioretinal artery was hypoperfused, yet this retinal territory at least partially corresponded to the only preserved visual field in that eye. The sector of the optic disc corresponding to the emergence of the cilioretinal artery was the only sector spared by pallid edema. This pattern of sectoral sparing associated with a cilioretinal artery has been observed in other patients with GCA and in animal models of posterior ciliary artery occlusion. This case serves as a clear example of an incompletely understood phenomenon in posterior pole circulation in vascular occlusive disease that deserves further study.
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Arteritis de Células Gigantes , Neuropatía Óptica Isquémica , Oclusión de la Arteria Retiniana , Anciano , Animales , Arterias Ciliares , Arteritis de Células Gigantes/complicaciones , Humanos , Neuropatía Óptica Isquémica/complicaciones , Neuropatía Óptica Isquémica/diagnóstico , Oclusión de la Arteria Retiniana/complicaciones , Oclusión de la Arteria Retiniana/diagnóstico , Vasos RetinianosRESUMEN
ABSTRACT: A collection of instructional videos that illustrate a step by step approach to tele-neuro-ophthalmology and neuro-otology visits. These videos provide instruction for patient preparation for their video visit, patient and provider interface with an electronic medical record associated video platform, digital applications to assist with vision testing, and practical advice for detailed remote neuro-ophthalmologic and neuro-otologic examinations.
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Recursos Audiovisuales/provisión & distribución , Atención a la Salud/organización & administración , Otoneurología/organización & administración , Oftalmología/organización & administración , Telemedicina/métodos , Telemedicina/organización & administración , Técnicas de Diagnóstico Oftalmológico , Humanos , Materiales de Enseñanza/provisión & distribuciónRESUMEN
BACKGROUND: The novel coronavirus 2019 (COVID-19) pandemic has transformed health care. With the need to limit COVID-19 exposures, telemedicine has become an increasingly important format for clinical care. Compared with other fields, neuro-ophthalmology faces unique challenges, given its dependence on physical examination signs that are difficult to elicit outside the office setting. As such, it is imperative to understand both patient and provider experiences to continue to adapt the technology and tailor its application. The purpose of this study is to analyze both neuro-ophthalmology physician and patient satisfaction with virtual health visits during the time of the COVID-19 pandemic. METHODS: Across three institutions (NYU Langone Health, Indiana University Health, and Columbia University Medical Center), telemedicine surveys were administered to 159 patients. Neuro-ophthalmologists completed 157 surveys; each of these were linked to a single patient visit. Patient surveys consisted of 5 questions regarding visit preparation, satisfaction, challenges, and comfort. The physician survey included 4 questions that focused on ability to gather specific clinical information by history and examination. RESULTS: Among 159 patients, 104 (65.4%) reported that they were satisfied with the visit, and 149 (93.7%) indicated that they were comfortable asking questions. Sixty-eight (73.9%) patients found the instructions provided before the visit easy to understand. Potential areas for improvement noted by patients included more detailed preparation instructions and better technology (phone positioning, Internet connection, and software). More than 87% (137/157) of neuro-ophthalmologists surveyed reported having performed an examination that provided enough information for medical decision-making. Some areas of the neuro-ophthalmologic examination were reported to be easy to conduct (range of eye movements, visual acuity, Amsler grids, Ishihara color plates, and pupillary examination). Other components were more difficult (saccades, red desaturation, visual fields, convergence, oscillations, ocular alignment, and smooth pursuit); some were especially challenging (vestibulo-ocular reflex [VOR], VOR suppression, and optokinetic nystagmus). Clinicians noted that virtual health visits were limited by patient preparation, inability to perform certain parts of the examination (funduscopy and pupils), and technological issues. CONCLUSIONS: Among virtual neuro-ophthalmology visits evaluated, most offer patients with appointments that satisfy their needs. Most physicians in this cohort obtained adequate clinical information for decision-making. Even better technology and instructions may help improve aspects of virtual health visits.
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COVID-19/epidemiología , Oftalmopatías/diagnóstico , Oftalmología/métodos , Pandemias , Médicos/estadística & datos numéricos , Encuestas y Cuestionarios , Telemedicina/métodos , Comorbilidad , Oftalmopatías/epidemiología , Humanos , Estudios RetrospectivosRESUMEN
Purpose: The majority of pediatric patients with optic nerve gliomas (ONG) remain asymptomatic; however, a subset of patients suffer rapid, irreversible visual loss. The purpose of this study was to determine anatomic differences of ONG noted either by imaging or by intra-operative observation between patients with gradual visual dysfunction and those with rapid visual loss. Methods: A retrospective review was performed in patients with visual loss secondary to ONG. The clinical records, pathology, and radiographic images were reviewed for all patients. The degree of folding or plication of the optic nerve (ON) was determined by analyzing the most acute angle present in the course of the ON. Outcome measures: The primary outcome measure was the angle of plication or folding of the ON and the relationship of this to the course of visual dysfunction. Results: Six patients with ONG were included in the study. A structural difference in the ON was identified in four patients with rapid vision loss compared with two patients with more gradual visual dysfunction. In patients with rapid progressive visual loss, the ONG had a 90-degree or more acute plication of the ON. Those with more gradual visual loss had more obtuse bends in the ONG. Conclusions: We have identified that the intrinsic structure of the ONG may contribute to the rare but devastatingly rapid progression of visual dysfunction in some patients. Recognizing these changes may guide clinicians to intervene prior to the development of irreversible visual loss.
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Glioma del Nervio Óptico , Ceguera , Niño , Humanos , Glioma del Nervio Óptico/cirugía , Estudios Retrospectivos , Trastornos de la Visión/etiologíaRESUMEN
We report a case of a 47-year-old female who experienced periorbital swelling while descending from a Himalayan mountain climb and was found to have bilateral superior ophthalmic vein thromboses (SOVT). Infectious, autoimmune, and hypercoagulability work-up were negative with no cavernous sinus involvement. Symptoms resolved upon initiation of anticoagulation and oral steroids. SOVT is a rare but serious condition and has a risk of extending into the cavernous sinus if not treated early. Although infection is the most common etiology, venous thrombosis can be precipitated under high altitude and low oxygen pressure environments. We present a case of superior ophthalmic vein thrombosis associated with high-altitude conditions.
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Seno Cavernoso , Trombosis de la Vena , Altitud , Femenino , Humanos , Persona de Mediana Edad , Trombosis de la Vena/diagnóstico por imagen , Trombosis de la Vena/tratamiento farmacológicoRESUMEN
The contributions of William F. Hoyt, MD, to the field of neuro-ophthalmology are immense. His precision in history-taking and examination skills provided the foundation to fully understand a clinical disorder-determining its underlying pathophysiology, prognosis, and management. We describe two unusual eye movement disorders, superior oblique myokymia and ocular neuromyotonia, and how Dr. Hoyt's contributions shaped our understanding of these clinical entities.
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Síndrome de Isaacs , Trastornos de la Motilidad Ocular , Oftalmología , Enfermedades del Nervio Troclear , Humanos , Síndrome de Isaacs/diagnóstico , Trastornos de la Motilidad Ocular/diagnósticoRESUMEN
PURPOSE OF REVIEW: Neuroretinitis is an inflammatory disorder of the eye presenting with optic disc edema and the delayed development of a macular star secondary to optic nerve swelling toward the macular structures. Neuroretinitis can be divided into idiopathic, infectious (including neuroretinitis associated with cat scratch disease) and recurrent. RECENT FINDINGS: The clinical presentation of neuroretinitis includes impaired visual acuity, dyschromatopsia, relative afferent pupillary defects and visual field abnormalities - particularly cecocentral and central scotomas. Features suggesting recurrent neuroretinitis include poorer visual recovery and visual field abnormalities representing damage to greater parts of the optic nerve. Treatment of neuroretinitis is based upon the cause of the disease. Specifically, in patients with cat scratch neuroretinitis, visual recovery is often favorable regardless of treatment with medication. However, some authors favor treatment with antibiotics early in the course of disease to limit progression and ensure eradication of the organism. SUMMARY: Neuroretinitis can result from a number of infectious and noninfectious causes and it is essential that clinicians recognize the disease and determine the underlying etiology to ensure the best possible treatment and visual prognosis for the patient.
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Retinitis , Bartonella henselae/patogenicidad , Enfermedad por Rasguño de Gato/complicaciones , Humanos , Papiledema/diagnóstico , Retinitis/diagnóstico , Retinitis/etiología , Escotoma/diagnósticoRESUMEN
BACKGROUND: Tacrolimus (FK506, Prograf) is a potent immunosuppressant, which inhibits cytokine synthesis and blocks T-cell development. Optic neuropathy from tacrolimus toxicity is very uncommon but, when present, can result in severe vision loss. METHODS: Case series and review of the literature. RESULTS: We present 3 patients with tacrolimus optic neuropathy after bone marrow transplantation complicated by graft-vs-host disease and demonstrate the differing clinical and radiologic presentation of this presumed toxic optic neuropathy. CONCLUSIONS: Tacrolimus optic neuropathy can manifest in a multitude of clinical presentations and can have devastating visual consequences.
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Inmunosupresores/efectos adversos , Enfermedades del Nervio Óptico/inducido químicamente , Tacrolimus/efectos adversos , Anciano , Trasplante de Médula Ósea/efectos adversos , Líquido Cefalorraquídeo , Enfermedad Injerto contra Huésped/tratamiento farmacológico , Enfermedad Injerto contra Huésped/etiología , Humanos , Leucocitosis , Linfocitos/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Disco Óptico/patología , Enfermedades del Nervio Óptico/diagnóstico , Agudeza Visual/fisiología , Pruebas del Campo Visual , Campos Visuales/fisiologíaRESUMEN
PURPOSE OF REVIEW: Optic pathway gliomas (OPG) are the most common tumor of the anterior visual pathway and can involve the optic nerve, chiasm, tract, and optic radiations. They are typically benign lesions, often pilocytic astrocytomas, which are diagnosed in childhood. We review the epidemiology, clinical presentation, diagnosis, and management of these lesions in patients with and without neurofibromatosis type 1 (NF-1). RECENT FINDINGS: Most commonly, patients diagnosed with OPG have NF-1 especially if the lesions are bilateral. Such lesions tend to have a relatively indolent course and at least 50% of patients have no evidence of visual loss. Rarely, children without NF-1 may sporadically develop OPG with such lesions often having a more aggressive nature and greater propensity for visual dysfunction. The gold standard for diagnosis and follow-up are thorough neuro-ophthalmic examinations with specific attention to visual acuity. Management must be individualized and may comprise conservative follow-up, chemotherapy, radiation and/or surgical intervention. SUMMARY: OPG may range in their behavior based upon the nature of the tumor (NF-1 or sporadic). Current guidelines recommend following patients with regular clinical examinations. Management of these lesions is highly individualized based upon the nature and extent of the lesion, visual function and side-effect profile of the treatment. Clinicians should be aware of the available options to determine which may be best suited for their patient.
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Glioma del Nervio Óptico/diagnóstico , Neoplasias del Nervio Óptico/diagnóstico , Vías Visuales/patología , Niño , Preescolar , Humanos , Imagen por Resonancia Magnética , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/terapia , Glioma del Nervio Óptico/terapia , Neoplasias del Nervio Óptico/terapia , Agudeza VisualAsunto(s)
Humor Acuoso/microbiología , Uveítis/microbiología , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/genética , Antibacterianos/uso terapéutico , Diagnóstico Diferencial , Quimioterapia Combinada , Humanos , Masculino , Metagenómica , Persona de Mediana Edad , Tropheryma/genética , Uveítis/tratamiento farmacológico , Enfermedad de Whipple/tratamiento farmacológicoAsunto(s)
Betacoronavirus , Infecciones por Coronavirus/epidemiología , Atención a la Salud/organización & administración , Oftalmopatías/terapia , Neurología/métodos , Oftalmología/métodos , Neumonía Viral/epidemiología , Telemedicina/organización & administración , COVID-19 , Implementación de Plan de Salud/organización & administración , Humanos , Pandemias , Selección de Paciente , Consulta Remota/instrumentación , SARS-CoV-2RESUMEN
Optic neuritis (ON) can present as the first demyelinating attack in both multiple sclerosis (MS) and myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD), which may require different treatment depending on the final diagnosis. We present 2 young Hispanic women who presented with ON during pregnancy, one of whom was diagnosed with MS and the other with MOGAD. We describe key clinical features to help differentiate between MS and MOGAD including ON features, brain and spinal MRI, CSF profiles, and serum MOG and aquaporin-4 (AQP-4) antibodies, which all can help guide clinicians to an ultimate diagnosis. Pregnancy is usually considered an immunotolerant state because complex immunologic shifts arising to support tolerance of the developing fetus seem to decrease the risk of relapses. However, relapses may still occur during pregnancy, and relapse rates increase immediately postpartum. Our cases raise the possibility that young Hispanic patients may face increased risk of demyelinating disease activity even during the relatively immunotolerant state of pregnancy. A high index of suspicion for demyelinating disease should be maintained to accelerate diagnosis and prevent disability.
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Hispánicos o Latinos , Esclerosis Múltiple , Glicoproteína Mielina-Oligodendrócito , Neuritis Óptica , Complicaciones del Embarazo , Humanos , Femenino , Neuritis Óptica/diagnóstico , Embarazo , Glicoproteína Mielina-Oligodendrócito/inmunología , Esclerosis Múltiple/etnología , Esclerosis Múltiple/diagnóstico , Adulto , Adulto Joven , Diagnóstico Diferencial , Acuaporina 4/inmunología , Imagen por Resonancia Magnética , Autoanticuerpos/sangreRESUMEN
Purpose: Tubulointerstitial nephritis syndrome with uveitis (TINU) is a rare, acquired syndrome characterized by interstitial nephritis with bilateral uveitis. We report a case of TINU with typical bilateral anterior uveitis complicated by an atypical, delayed-onset neuroretinitis in a 12-year old patient. Observation: A 12-year-old female with a 21-month history of TINU featuring chronic bilateral anterior uveitis presented with one week of blurred vision in her left eye. On exam she was found to have new-onset disc edema in the right eye and neuroretinitis in the left eye. After a negative infectious disease workup, the patient was treated with a course of intravenous (IV) solumedrol with prednisone taper and advancement of her systemic immunosuppression. In follow up she demonstrated resolution of her disc edema and neuroretinitis with improved visual acuity and clinical exam. Conclusion: This case stresses the importance of monitoring for additional ocular manifestations including neuroretinitis years after the onset of anterior uveitis in TINU. In comparison to the two published cases of TINU with neuroretinitis, this case shares features of uveitis progression, and thus highlights the value of further description of TINU-associated neuroretinitis.
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Purpose: To describe a case of incomitant divergence insufficiency esotropia in the setting of Machado-Joseph disease (spinocerebellar ataxia type 3) that recurred completely within one week after augmented bilateral medial rectus recession. Observations: A 53-year-old female with a history of Machado-Joseph disease presented with horizontal diplopia primarily at distance consistent with divergence insufficiency esotropia. Augmented bilateral medial rectus recessions were performed which initially produced orthotropia, but recurrence of the esodeviation to the full preoperative amount occurred by post-operative week one. The patient subsequently underwent bilateral lateral rectus resections with excellent result. Conclusions and importance: Divergence insufficiency is common in the spinocerebellar ataxia variants and is thought to be secondary to atrophy of brainstem structures involved in the control of ocular vergence. Strabismus surgery in these patients may be complicated by limited response or even rapid regression despite augmented surgery as suggested for divergence insufficiency in the setting of neurologic disease. Patients should be counseled on these risks as well as the potential for multiple procedures in order to achieve surgical success.
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BACKGROUND: Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described cause of inherited cone-rod and cone dystrophy. This study describes the unusual phenotypes of three patients with autosomal recessive mutations in TTLL5. Examination of these patients included funduscopic evaluation, spectral-domain optical coherence tomography, short-wavelength autofluorescence, and full-field electroretinography (ffERG). Genetic diagnoses were confirmed using whole exome capture. Protein modeling of the identified variants was performed to explore potential genotype-phenotype correlations. RESULTS: Genetic testing revealed five novel variants in TTLL5 in three unrelated patients with retinal dystrophy. Clinical imaging demonstrated features of sectoral cone-rod dystrophy and cone dystrophy, with phenotypic variability seen across all three patients. One patient also developed high-frequency hearing loss during a similar time period as the onset of retinal disease, potentially suggestive of a syndromic disorder. Retinal structure findings were corroborated with functional measures including ffERG findings that supported these diagnoses. Modeling of the five variants suggest that they cause different effects on protein function, providing a potential reason for genotype-phenotype correlation in these patients. CONCLUSIONS: The authors report retinal phenotypic findings in three unrelated patients with novel mutations causing autosomal recessive TTLL5-mediated retinal dystrophy. These findings broaden the understanding of the phenotypes associated with TTLL5-mediated retinal disease and suggest that mutations in TTLL5 should be considered as a potential cause of sectoral retinal dystrophy in addition to cone-rod and cone dystrophies.