9 documents found, page 1 of 1

Vestibulo-Ocular Reflex Dynamics with Head-Impulses Discriminates Usher Patient...

Usher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patients (USH) with a genetically confirmed diagnosis and 30 healthy controls were studied with vHIT and dizziness handicap invent...

Cognitive impairment and markers of optical neurodegeneration in early multiple...

Introduction: Cognitive impairment and retinal atrophy have been proposed as two potential markers of neurodegeneration in multiple sclerosis (MS). We aimed at assessing the relation between peripapillary retinal nerve fiber layer (pRNFL) and macular ganglion cell layer (mGCL) atrophy and cognitive performance in early MS. Methods: This is a multicenter cross-sectional study on patients with early MS (clinicall...

Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Muta...

Ocular neuromyotonia

Ocular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical d...

Visual and ocular motor function in the atypical form of neurodegeneration with...

BACKGROUND/AIMS: Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical...

Visual Cortex Plasticity Following Peripheral Damage To The Visual System: fMRI...

Over the last two decades, functional magnetic resonance imaging (fMRI) has become a powerful research method to investigate cortical visual plasticity. Abnormal fMRI response patterns have been occasionally detected in the visually deprived cortex of patients with bilateral retinal diseases. Controversy remains whether these observations indicate structural reorganization of the visual cortex or unmasking of p...

Pseudotumor do pulmão

Pseudotumor do pulmão é um termo utilizado para descrever alterações imagiológicas compatíveis com massas tumorais, mas cujo estudo posterior revela não o serem. Quando nos referimos à etiologia cardiogénica para o pseudotumor do pul- mão, falamos de “vanishing tumor”, isto porque a coleção localizada de líquido responde francamente à terapêutica diurética. Apresenta-se um caso clínico de um homem de 81 anos, c...

Prognosis of Ocular Myasthenia Gravis: Retrospective Multicenter Analysis

PURPOSE: To calculate the rate and timing of conversion from ocular myasthenia gravis to generalized myasthenia gravis. DESIGN: Retrospective multicenter analysis. SUBJECTS: Patients included in the study were diagnosed with ocular myasthenia gravis without the presence of generalized disease at onset. METHODS: We conducted a retrospective multicenter analysis. We reviewed charts of 158 patients who met diagnos...

Downbeat nystagmus elicited by eyelid closure

We describe a patient with downbeat nystagmus (DBN) evoked only by eye closure. Brain and spinal cord magnetic resonance imaging revealed a T2 paramedian lesion in the left lower basis pontis and other white matter lesions consistent with multiple sclerosis. One potential mechanism for DBN in this case involves transverse ephaptic spread of excitation from areas that subserve coordinated lid closure to the decu...