Presentation
Recorded variables included age, mode of inheritance, birth history, nystagmus presentation, direction of the nystagmus, waveform types, spatial and temporal null zones, head postures and nodding, convergence, foveation, ocular alignment, refractive error [research.manchester.ac.uk]
[…] di primo grado, presente soltanto in fissazione laterale e con fase rapida nella direzione della fissazione; Second degree nystagmus is present in the primary (neutral) position of gaze; nistagmo di secondo grado, presente nella fase primaria (neutrale [englishgratis.com]
OKN response is still present. Acquired pendular nystagmus can present in young children resulting from dysmyelinating and demyelinating conditions. [in-vision.org.uk]
If a child’s presentation does not precisely fulfill the criteria for congenital motor nystagmus, neuroradiologic testing is necessary. Spasmus nutans. Spasmus nutans is acquired, typically presenting between the ages of 3 and 15 months. [aao.org]
The presenting neurological symptoms can vary depending on age of onset with infantile disease presenting with delayed developmental motor milestones, juvenile disease presenting with gait instability or clumsiness, and adult disease presenting with ataxia [neuroophthalmology.ca]
Entire Body System
- Epilepsy
Early Infantile, 6 Dravet Syndrome Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures, Included Myoclonic Epilepsy, Severe, Of Infancy Severe Myoclonic Epilepsy Of Infancy EIEE6 EIEE6 SME SMEI 607208 Genetic Test Registry Episodic [ukgtn.nhs.uk]
Modern management of epilepsy: a practical approach. Epilepsy Behav 2008;12:501-39. 15. Pillai JA, Haut SR. Patients with epilepsy and psychogenic non-epileptic seizures: An inpatient video-EEG monitoring study. Seizure 2012;21:24-7. 16. [hkjpaed.org]
Paroxysmal kinesigenic dyskinesia can be sporadic or familial, inherited in an autosomal dominant fashion, and may co-exist with epilepsy in the syndrome of familial infantile epilepsy (familial infantile epilepsy and paroxysmal kinesigenic dyskinesia [epilepsydiagnosis.org]
Abetalipoproteinemia -- Mitochondrial Encephalomyelopathies -- Chronic Progressive External Ophthalmoplegia (CPEO) -- Leigh Subacute Necrotizing Encephalomyelopathy -- Mitochondrial Encephalomyelopathy and Stroke-Like Episodes (MELAS) -- Myoclonic Epilepsy [search.library.wisc.edu]
Still, it is most commonly used in the treatment of different types of epileptic seizures where it can provide much relief from the symptoms of these seizures and can help people with epilepsy live a normal life. [rxshop.md]
- Intravenous Drugs
Barton, J.J., Huaman, A.G., Sharpe, J.A.: Muscarinic antagonists in the treatment of acquired pendular and downbeat nystagmus: a double-blind, randomized trial of three intravenous drugs, Ann Neurol 35:319-325, 1994. [webeye.ophth.uiowa.edu]
Barton JS, Huaman AG, Sharpe JA: Muscarinic antagonists in the treatment of acquired pendular and downbeat nystagmus: A double-blind, randomized trial of three intravenous drugs. Ann Neurol 35:319, 1994 129. [oculist.net]
Ears
- Benign Paroxysmal Positional Vertigo
paroxysmal positional vertigo (BPPV). [primehealthchannel.com]
Nystagmus Benign paroxysmal positional vertigo Central positional nystagmus Positional alcohol nystagmus. [tchain.com]
Ophthalmic Genet. (2005) [ Pubmed ] Evaluation of vertical semicircular canal function by the caloric test--a study on patients with benign paroxysmal positional vertigo. Iida, M., Naitoh, A., Aihara, H., Takahashi, H., Hitouji, K., Nomura, K. [wikigenes.org]
Positional nystagmus occurs when a person's head is in a specific position. [23] An example of disease state in which this occurs is Benign paroxysmal positional vertigo (BPPV). [en.wikipedia.org]
paroxysmal positional vertigo Periodic alternating nystagmus Arnold-Chiari malformation Demyelinating disease Spinocerebellar degeneration Lesions of the vestibular nuclei Head trauma Encephalitis Syphilis Posterior fossa tumors Binocular visual deprivation [complexchild.org]
Eyes
- Diplopia
Jacobs, PhDa,bRPOSE To investigate the effects of combinacquired downbeat nystagmus and horTHODS Patient 1 had downbeat nystagmus with aand diplopia. [vdocuments.site]
Panum's area Images outside of Panum's area appear double (diplopia) UNLESS we can activate the ______ system A. version B. vergence C. duction D. Alexander's vergence **There is no such thing as Alexander's system. [quizlet.com]
Il nistagmo congenito si verifica più frequentemente del nistagmo acquisito, non è associato ad altri disturbi (come errori di rifrazione o diplopia) ed è di solito di grado medio e non-progressivo. [englishgratis.com]
Superior oblique myokymia Defined as oscillation of one eye due to intermittent firing of the superior oblique muscle Produces oscillopsia or intermittent diplopia elicited by having the patient look in the direction of the superior oblique muscle [slideshare.net]
[…] or intramuscular injection of botulinum toxin Retrobulbar or intramuscular injection of botulinum toxin (BOTOX®) has been demonstrated to abolish nystagmus temporarily, but patient satisfaction has been poor due to adverse effects, such as ptosis or diplopia [emedicine.medscape.com]
- Scotoma
Abstract | Links | BibTeX Maria J Barraza-Bernal; Katharina Rifai; Siegfried Wahl The retinal locus of fixation in simulations of progressing central scotomas Journal Article Journal of Vision, 18 (1), pp. 1–12, 2018. [sr-research.com]
Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Hemianopsia binasal bitemporal homonymous Quadrantanopia Asthenopia Hemeralopia Photophobia Scintillating scotoma Anopsiasubjective [scientiait.com]
The visual aura of migraine preceding a headache can take a variety of forms but is typically in one visual field and contains positive phenomena such as flashes, arcs of lights (fortification spectra), specks, or flames and negative phenomena such as scotoma [epilepsydiagnosis.org]
Jacobs JB, Serra A, Dell'Osso LF: Oscillating scotomas of migraine auras or “induced” see-saw nystagmus (SSN) with loss of vertical fusion in congenital nystagmus (CN). p. ARVO Abstr 2657. [oculist.net]
Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma [maria-online.com]
Neurologic
- Oscillopsia
[…] inheritance, birth history, nystagmus presentation, direction of the nystagmus, waveform types, spatial and temporal null zones, head postures and nodding, convergence, foveation, ocular alignment, refractive error, visual acuity, stereoacuity, and oscillopsia [research.manchester.ac.uk]
Oscillopsia consists of illusory, oscillatory movements of the seen environment. When oscillopsia occurs with head movements, it usually implies loss of vestibular function. [fadavispt.mhmedical.com]
Recently, Abadi et al 62 explored oscillopsia and tolerance to retinal image movement in idiopathic CN. [bjo.bmj.com]
If an individual with nystagmus experiences oscillopsia, then the nystagmus is acquired. [encyclopedia.com]
- Upbeat Nystagmus
Neurology, 60,2003, 344 Central nystagmus (downbeat, upbeat nystagmus, horizontal, torsional) Upbeat nystagmus (UBN). [tchain.com]
Keywords:: 3,4-diaminopyridine, acquired nystagmus, acquired pendular nystagmus, baclofen, downbeat nystagmus, gabapentin, infantile nystagmus, memantine, multiple sclerosis, periodic alternating nystagmus, upbeat nystagmus [tandfonline.com]
Toxic exposure is infrequent: gaze-evoked upbeat nystagmus is more common than primary position upbeat nystagmus with drug toxicity (1351). [neuroophthalmology.ca]
Upbeat nystagmus Upbeat nystagmus is less common than downbeat nystagmus and does not intensify in lateral gaze. [in-vision.org.uk]
Syndrome -- Treatment of Nystagmus Blockage Syndrome -- Vertical Nystagmus -- Upbeating Nystagmus in Infancy -- Congenital Downbeat Nystagmus -- Hereditary Vertical Nystagmus -- Periodic Alternating Nystagmus -- Seesaw Nystagmus -- Congenital versus [search.library.wisc.edu]
- Myoclonus
Brainstem myoclonus, although also axial in distribution, can be distinguished from propriospinal myoclonus as there is involvement of the face and myoclonus may be triggered by auditory stimuli. [epilepsydiagnosis.org]
We have investigated the effect of high doses of the anticholinergic drug trihexyphenidyl in four patients with palatal myoclonus and in four patients with acquired pendular nystagmus [2]. [wikigenes.org]
Nakada T, Kwee IL: Oculopalatal myoclonus. Brain 109:431, 1986 280. Deuschl G, Mischke G, Schenck E, et al: Symptomatic and essential rhythmic palatal myoclonus. Brain 113:1645, 1990 281. [oculist.net]
Myoclonus can be epileptic and / or non-epileptic, including various benign forms of myoclonus related to sleep e.g. hypnagogic myoclonus and benign neonatal sleep myoclonus. [hkjpaed.org]
The so-called "ocular myoclonus" associated with the oculo-palatal myoclonus syndrome, may respond to valproic acid (Lefkowitz and Harpold, 1985). [tchain.com]
- Ocular Flutter
End point nystagmus Ocular flutter is considered a pathology of the _____ phase system A. slow B. fast C. slow and fast Ocular flutter has back-to-back saccades with an intersaccadic interval. [quizlet.com]
Saccadic intrusions and oscillations and the clinical features, etiology, pathophysiology, and management of square-wave jerks, macrosaccadic oscillations, saccadic pulses, ocular flutter, opsoclonus, and voluntary saccadic oscillations are summarized [oxfordmedicine.com]
The back-to-back saccades of ocular flutter are mainly horizontal and intermittent. Voluntary nystagmus is similar to ocular flutter, but it is associated with excessive convergence. [opt.indiana.edu]
See also Vedi anche myokymia miochimia oscillopsia oscillopsia ocular flutter flutter oculare opsoclonus opsoclono vestibular paroxysmia parossismo vestibolare [englishgratis.com]
- Dysmetria
Saccadic disorders, on the other hand, result from uncontrolled triggering of saccades, such as opsoclonus (dancing eyes) and flutter, or uncalibrated amplitudes of tracking saccades (saccade dysmetria). [opt.indiana.edu]
Saccadic overshoot dysmetria: an oculographic, control system and clinico-anatomical analysis. Brain 99:497, 1976 252. Vilis T, Snow R, Hore J: Cerebellar saccadic dysmetria is not equal in the two eyes. Exp Brain Res 51:343, 1983 253. [oculist.net]
The conditions that make up the differential diagnoses of Nystagmus include: Opsocionus Ocular flutter Ocular dysmetria Opsoclonus myoclonus Macrosquare wave jerks Macrosaccadic oscillations Superior oblique myokymia Nystagmus Treatment Although Congenital [primehealthchannel.com]
INO and saccadic dysmetria are rare (1273,1274,1276). There are several hypotheses about the origins of downbeat nystagmus. [neuroophthalmology.ca]
Workup
If MRI is not diagnostic, a complete ophthalmologic workup should be pursued. Full Article https://drive.google.com/open?id=1h76ziIrxB6TpINMsPF1mcsWvvAvVkaj3 [neuro-ophthalmology.stanford.edu]
But if the nystagmus is new or of sudden onset, a child may need a diagnostic workup. In some children, assessing the pattern of the nystagmus and determining any other symptoms can help to identify a diagnosis. [complexchild.org]
Because most of the patients in this study had their nystagmus for more than a decade, no neurologic workup was performed. [docslide.com.br]
It is accepted as neurologically benign, however, in cases with associated systemic and neurological problems and in cases that is diagnosed after 6 months neuroradiological evaluation and systemic workup are required. [omicsonline.org]
Since INS often presents in conjunction with a pathology of the visual pathway, a full ophthalmological workup is required in any child presenting with nystagmoid eye movements for the first time. [in-vision.org.uk]
Treatment
Neurology (1987) [ Pubmed ] Trihexyphenidyl treatment of vertical pendular nystagmus. Herishanu, Y., Louzoun, Z. Neurology (1986) [ Pubmed ] Treatment of periodic alternating nystagmus. Halmagyi, G.M., Rudge, P., Gresty, M.A., Leigh, R.J., Zee, D.S. [wikigenes.org]
Recommended Reading – Treatment of Nystagmus and Saccadic Oscillations August 22, 2018 By Talmage Cooper Recommended Reading – Treatment of Nystagmus and Saccadic Oscillations Treatment of Nystagmus and Saccadic Oscillations Matthew J. [neuro-ophthalmology.stanford.edu]
Treatments for nystagmus and saccadic intrusions are summarized, including pharmacological treatments, optical treatments, procedures to weaken the extraocular muscles (e.g., Kestenbaum-Anderson procedure), and measures such as biofeedback and vibration [oxfordmedicine.com]
McLean et al investigated treatment of congenital nystagmus with memantine or gabapentin in a randomized, double-blind, placebo-controlled trial of 48 patients. [7] Improvement in mean visual acuity was noted in both treatment groups (F=6.2; p=0.004, [medscape.com]
The third edition builds upon this format to incorporate new discoveries about mechanisms of disease, new diagnostic modalities, advances in treatment in the field of pediatric neuro-ophthalmology, and updated neuroimaging figures. [search.library.wisc.edu]
Prognosis
The format includes the CPT codes for billing purposes, short description of the condition, etiology/incidence, course/prognosis, laboratory findings, differential diagnosis; prophylaxis, treatment (local and systemic, surgical or other), miscellaneous [books.google.ro]
Prognosis Congenital nystagmus is usually a benign condition. It is not curable, but its symptoms can be diminished with spectacles or contact lenses. [encyclopedia.com]
These groups of brain disorders are characterized by the degeneration of the brain white matter and have yet a very bad prognosis [ 28, 29 ]. [clinmedjournals.org]
(ANN) www.nystagmus.org/ • Underlying disease specific support groups PROGNOSIS • Visual acuity varies and depends on etiology • Most forms of nystagmus, including congenital/infantile isolated motor nystagmus, dampen with age but rarely resolve. • Anomalous [entokey.com]
Etiology
This chapter reviews the approach to the patient with nystagmus or saccadic intrusions and their clinical features (with illustrative video cases), etiology, pathophysiology, and management. [oxfordmedicine.com]
It is important to diagnose leukodystrophies as the etiology of ICN. These groups of brain disorders are characterized by the degeneration of the brain white matter and have yet a very bad prognosis [ 28, 29 ]. [clinmedjournals.org]
ETIOLOGY • Isolated congenital/infantile motor nystagmus may or may not have genetic etiology. • Acquired nystagmus – Sensory: Vision loss before age 2 years – Central nervous system anomalies – Degenerative brain disorders, stroke, tumor – Vestibular [entokey.com]
Nystagmus can be physiologic or pathologic according to etiology. [omicsonline.org]
Epidemiology
Relevant External Links for FRMD7 Genetic Association Database (GAD) FRMD7 Human Genome Epidemiology (HuGE) Navigator FRMD7 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FRMD7 No data available for Genatlas for FRMD7 Gene Mutations in [genecards.org]
EPIDEMIOLOGY Incidence Idiopathic motor infantile/congenital nystagmus: 1 in 2,850 ( 1 ). Prevalence Approximately 0.5%, including those associated with strabismus and other diseases. [entokey.com]
Epidemiologic and statistical methods in ophthalmology. In: Albert DM, Jakobiec FA, eds. Principle and practice of ophthalmology. Basic Sciences. Philadelphia: WB Saunders, 1994, 1227–44 Foster F, Gilbert C. [bjo.bmj.com]
Nystagmus Epidemiology It is a common clinical condition that affects one in every 2000 to 3000 individuals. A survey in Oxfordshire, UK revealed that one in every 670 kids manifest nystagmus by 2 years of age. [primehealthchannel.com]
[…] metabolic disorders and combination 1.2.3 Thiamine deficiency 1.2.4 Central nervous system (CNS) diseases and disorders 1.3 Other causes 2 Diagnosis 2.1 Pathologic nystagmus 2.1.1 Variations 2.2 Physiological nystagmus 2.2.1 Variations 3 Treatment 4 Epidemiology [scientiait.com]
Pathophysiology
This chapter reviews the approach to the patient with nystagmus or saccadic intrusions and their clinical features (with illustrative video cases), etiology, pathophysiology, and management. [oxfordmedicine.com]
In this chapter, we review current treatments for vertigo, oscillopsia, and the visual consequences of nystagmus from the standpoint of known pathophysiology. [fadavispt.mhmedical.com]
[…] the clinical and ocular motility characteristics of the periodic and aperiodic forms of infantile alternating nystagmus (IAPAN) and establishes the range of electrophysiological and clinical characteristics while providing clues to its presence and pathophysiology [unboundmedicine.com]
Prevention
Because Frenzel lenses prevent visual fixation, they must be removed to assess visual fixation. Caloric stimulation of the ear canal induces nystagmus in a person with an intact vestibular system. [msdmanuals.com]
Prevention In general nystagmus cannot be prevented. [encyclopedia.com]
110025 Disease Name: Congenital glucose-galactose malabsorption (GGM) Synonym: Pathogen: General Description: Glucose-galactose absorption may be a condition within which the cells lining the gut cannot absorb the sugars aldohexose and brain sugar, that prevents [humandiseaseinsight.com]
Evaluation of nystagmus, especially before surgery, for at least 3 minutes, preferably with eye movement recordings, is necessary to diagnose PAN and perhaps prevent Kestenbaum procedures, which seem inappropriate. [ncbi.nlm.nih.gov]