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Hereditary Nystagmus


Presentation

  • In this paper, the authors present a case study of a patient whose nystagmus has a strong and exclusive male hereditary component. Genetic argumentation is presented in support of this conclusion.[ncbi.nlm.nih.gov]
  • It is present physiologically in everyone to a minor degree under certain conditions but it is often pathologic when exaggerated movements are present during normal visual activities.[disorders.eyes.arizona.edu]
  • The signs and symptoms of neurological disease are elusive by their very nature, presenting a confounding diagnostic challenge.[books.google.com]
Fatigue
  • This nystagmus can increase in size and frequency when the patient is tired, sick, or fatigued. Some very young patients are noted to have head nodding or head shaking, but these usually disappear over time.[disorders.eyes.arizona.edu]
  • Occupational) Muscle Paretic (Myasthenic) Optokinetic (Induced, Optomotor, Panoramic, Railway, Sigma) Optokinetic After-Induced (Post-Optokinetic, Reverse Post-Optokinetic) Pendular (Talantropia) Periodic/Aperiodic Alternating Physiologic (End-Point, Fatigue[dwidude.com]
  • You might have dizziness (vertigo), fatigue and muscle weakness during your episodes. In some cases, symptoms resolve in later life. Episodic ataxia doesn't shorten life span, and symptoms might respond to medication.[mayoclinic.org]
  • Monocular vision Reduced visual field Reduced depth perception May develop blindness in one eye Reduced visual-motor abilities Eye fatigue with close or detailed work Frequent breaks Seating should favor functional eye.[tsbvi.edu]
  • […] train nystagmus, which occurs when watching objects that traverse the visual field rapidly, or as a result of thermal stimulation of the labyrinth of the inner ear by cold or hot water ( caloric nystagmus or Barany's nystagmus ), or when the eyes of a fatigued[medical-dictionary.thefreedictionary.com]
Movement Disorder
  • It is a type of bilateral involuntary eye movement disorder usually manifest as a slow movement in one direction and a rapid motion in the other direction.[disorders.eyes.arizona.edu]
  • We work with people of all ages who have eye movement disorders. Our goal is to identify the cause of your eye movement disorder and help you receive the most effective treatment.[dukehealth.org]
  • Children with eye movement disorders are monitored closely with repeat testing while they are young. Genetic Testing Genetic testing and counseling is available to the parents of children with eye movement disorders that are linked to heredity.[shileyeye.ucsd.edu]
  • disorders- tremors, dystonia, chorea 1 PNS : degeneration of large sensory cells in dorsal root ganglion Sensory neuropathy Loss of deep tendon reflexes in all extremeties Hearing loss (5-10%) Musculoskeletal Foot deformities (pes cavus - see photo below[pedclerk.bsd.uchicago.edu]
  • Lea and Febiger, 1983: 17. 16 Gay AJ, Newman NM, Keltner JL, Stroud MH : Eye movement disorders. Saint Louis. CV Mosby Co. 1974: 63. 17 Hoyt CS, Nickel BL, Billson FA : Ophthalmological examination of the infant. Developmental aspects.[nature.com]
Physician
  • physician assistants, nurse practitioners and nurses.[books.google.com]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • Am Fam Physician. 2001 Aug 15;64(4):623-629. Early and accurate detection of eye disorders in children can present a challenge for family physicians.[aafp.org]
  • Historically, X-linked ocular albinism is also called Nettleship-Falls ocular albinism, after the two physicians who defined its X-linked inheritance.[visionofchildren.org]
  • Ophthalmological Society, Canadian Society of Oculoplastic Surgery, Chinese Canadian Medical Society, European Society of Ophthalmic Plastic and Reconstructive Surgery, North American Neuro-Ophthalmology Society, Ontario Medical Association, Royal College of Physicians[emedicine.medscape.com]
Developmental Delay
  • Ophthalmol Pediatr Genet 1984, 4 : 155–62. 11 Uemera Y, Oguchi Y, Katsumi O : Visual developmental delay.[nature.com]
  • Other Diagnostic Modalities In infantile nystagmus syndrome, if the baby is healthy otherwise with no developmental delay and systemic problems, neuroradiological tests are not needed.[omicsonline.org]
  • Some children with De Morsier's Syndrome have normal intelligence, while others may be developmentally delayed, learning-disabled, or mentally retarded.[afb.org]
  • Learning disability, autism, cerebral palsy, and intellectual developmental delays can occur with ONH and SOD. Possible causes include young maternal age, genetic mutation, fetal alcohol syndrome, trauma, and viral infection.[tsbvi.edu]
Inflammation
  • Uveitis, or inflammation of the iris, ciliary body or choroid, may also cause light sensitivity, pain and loss of vision. Uveitis is called iritis if the inflammation is limited to the anterior chamber ( Figure 4 ).[aafp.org]
  • This is an inflammation in the inner ear. The patient may have dizziness (vertigo), nausea and vomiting, and nystagmus. Brain lesions. Disease in many parts of the brain can result in nystagmus. Alcohol and drugs.[medical-dictionary.thefreedictionary.com]
  • Common causes of scotoma include macular degeneration , glaucoma , and inflammation of the optic nerve.[afb.org]
  • Other causes include corneal inflammation, some medications, and eye injuries. Severe photophobia can be quite painful, even in relatively dim light.[tsbvi.edu]
  • Since december 1999 I also have the rotation nystagmus.( i felt dizzy at once, got a inflammation in both ears).Now I am still dizzy,with a sound in my ears,my left eye is turning clockwise and my right eye is turning anti-clockwise.I can not wear my[nystagmus.org]
Hemophilia A
  • The hereditary characteristic is presumably carried on the X chromosome as in red-green color blindness and hemophilia. The characteristics of the syndrome are discussed. Received June 6, 1955. Accepted February 2, 1956.[pediatrics.aappublications.org]
Cheyne-Stokes Respiration
  • Cheyne's nystagmus a peculiar rhythmical eye movement resembling Cheyne-Stokes respiration in rhythm. congenital nystagmus may be a primary functional defect or secondary to lesions in the visual pathways, sometimes associated with albinism.[medical-dictionary.thefreedictionary.com]
Vomiting
  • It can result in clinical symptoms such as vomiting, ataxia and head tilt. [1] [2] . In pathological nystagmus, primary disease results in nystagmus as a secondary symptom.[vetbook.org]
  • While in the hospital, he developed an episode of vertigo with nausea and vomiting.[dizziness-and-balance.com]
  • The patient may have dizziness (vertigo), nausea and vomiting, and nystagmus. Brain lesions. Disease in many parts of the brain can result in nystagmus. Alcohol and drugs.[medical-dictionary.thefreedictionary.com]
  • Fever, anorexia, nausea and vomiting, lymphadenopathy and skin hyperpigmentation may occur. There can be pleural effusions and lobar infiltrates (1257).[neuroophthalmology.ca]
Corneal Opacity
  • Patients present with a thickened cornea, with pachymetry readings two to three times normal, and a thickened Descemet’s membrane. 2 The incidence of congenital corneal opacities, including congenital glaucoma, is six per 100,000.[reviewofophthalmology.com]
  • It may be inherited as X-linked recessive or autosomal dominant, or induced in the uterus, and results from decreased vision due to corneal opacity, cataract, albinism, aniridia, macular disease or optic atrophy.[medical-dictionary.thefreedictionary.com]
  • In some cases anterior segment anomalies or pathologies such as corneal opacities dystrophies, iris and pupil anomalies can be detected with biomicroscopy.[omicsonline.org]
  • Leukocoria Alteration in the pupillary light reflexes (called leukocoria if the pupil appears white) may indicate a disorder anywhere within the eye. 10 Disorders include corneal opacity, blood (hyphema) or other material in the anterior chamber, cataract[aafp.org]
  • Photophobia Reduced central acuity Corneal opacity Excessive tearing Refractive error Eye pain May need to use sunglasses, visors, or hats outdoors and indoors as well Reduced or diffused lighting from behind Sunglasses, visors or hats may be worn indoors[tsbvi.edu]
Hemianopsia
  • Hemianopia, also known as hemianopsia, may be caused by various medical conditions, but usually results from a stroke or brain injury. It may affect either the right or left side of the visual field and is usually permanent.[afb.org]
  • Hemianopia (hemianopsia) Blindness or impaired vision in one half of the visual field in one or both eyes If both eyes are affected, vision loss may occur on the same side in both nasal fields, or in both temporal fields.[tsbvi.edu]
Torticollis
  • Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis.[books.google.com]
  • Treatment: Treatment of amblyopia (visual impairment, which cannot be corrected with a correction lenses), balancing of the binocular vision and correction of torticollis (involuntary compensatory head position).[optometry-today.com]
  • Onset prior to age 2 months, particularly in the setting of gaze-associated variable intensity and torticollis, strongly suggests idiopathic infantile nystagmus.[emedicine.medscape.com]
  • If vertical torticollis is present, the vertical rectus muscles can also be recessed. Asymptomatic eye movements do not require treatment.[aao.org]
Tinnitus
Benign Paroxysmal Positional Vertigo
  • paroxysmal positional vertigo Central positional nystagmus Positional alcohol nystagmus .[tchain.com]
Macula
  • Affected males have evidence of abnormal development of the central retina (macula) and the pigment of the retina appears irregular or 'mottled'. Females do not have this condition. General health is normal.[disorders.eyes.arizona.edu]
  • The macula has a high density of cones, ganglion cells, and pigment within bipolar and ganglion cells. The central 1.5 mm area of the macula is the fovea.[patient.info]
  • Macular holes are thought to be caused by tractional forces associated with the vitreous gel separating from the retina in the macula and around the central macula called the fovea.[afb.org]
  • Age-Related Macular Degeneration is the breaking down, or degeneration, of the macula area of the retina of the eye. Albinism the word “albinism” refers to a group of inherited conditions.[wnycvi.org]
  • Fundus examination showed a radial pattern of hypopigmentation that spared the macula. There was foveal hypoplasia with some retinal vessels that crossed the macular area, confirmed by the absence of the normal afluorescence of the macula.[bmcgenet.biomedcentral.com]
Flushing
  • Cold or warm water flushed into the ear canal will generate motion signals from the inner ear. The eyes will respond to this signal with nystagmus if the pathways are intact. Causes and symptoms There are many causes of nystagmus.[medical-dictionary.thefreedictionary.com]
Visual Hallucination
  • These include visual hallucinations, altered colour perception (1458), automatisms (1455), altered contralateral sensation (1455), clonic movements of the contralateral face and limbs (1455), and loss of consciousness (1455,1456).[neuroophthalmology.ca]
Nystagmus
  • Our present understanding of the genetics of hereditary nystagmus is somewhat limited. Few published medical sources have documented the existence of true cases of sex-linked hereditary nystagmus.[ncbi.nlm.nih.gov]
  • If the nystagmus is horizontal, the eye movement is usually "to-and-fro".[disorders.eyes.arizona.edu]
  • See Caloric nystagmus, Irritative nystagmus, Paralytic nystagmus, Recovery nystagmus, Opticokinetic nystagmus, Seesaw nystagmus. nys·tag·mus ( nis-tag'mŭs ) Rhythmic oscillation of the eyeballs, either pendular or jerky.[medical-dictionary.thefreedictionary.com]
  • Although the nystagmus frequency was also gaze-angle dependent, it was equal in both eyes. In the null region both nystagmus amplitude and frequency were minimal and equal for the two eyes.[journals.lww.com]
Nystagmus
  • Our present understanding of the genetics of hereditary nystagmus is somewhat limited. Few published medical sources have documented the existence of true cases of sex-linked hereditary nystagmus.[ncbi.nlm.nih.gov]
  • If the nystagmus is horizontal, the eye movement is usually "to-and-fro".[disorders.eyes.arizona.edu]
  • See Caloric nystagmus, Irritative nystagmus, Paralytic nystagmus, Recovery nystagmus, Opticokinetic nystagmus, Seesaw nystagmus. nys·tag·mus ( nis-tag'mŭs ) Rhythmic oscillation of the eyeballs, either pendular or jerky.[medical-dictionary.thefreedictionary.com]
  • Although the nystagmus frequency was also gaze-angle dependent, it was equal in both eyes. In the null region both nystagmus amplitude and frequency were minimal and equal for the two eyes.[journals.lww.com]
Pendular Nystagmus
  • Associated with congenital blindness. optokinetic nystagmus nystagmus induced by looking at objects moving across the field of vision. oscillatory nystagmus pendular nystagmus. pendular nystagmus that which consists of to-and-fro movements of equal velocity[medical-dictionary.thefreedictionary.com]
  • Differences in phase or amplitude between eyes is often seen in acquired pendular nystagmus. Acquired pendular nystagmus may be temporarily suppressed by saccades.[tchain.com]
  • Identifier 163-9-4 Title Familial Nystagmus Ocular Movements Congenital Nystagmus; Horizontal Pendular Nystagmus; Infantile Nystagmus Syndrome; Familial Congenital Nystagmus Creator Shirley H.[collections.lib.utah.edu]
  • Dissociation is common with pendular nystagmus. Acquired pendular nystagmus is dysconjugate in both size and direction in half of cases (Video “acquired pendular nystagmus” ).[neuroophthalmology.ca]
  • Pendular nystagmus) Characterised by slow pendular oscillations generally the wave form is very variable. Established pendular nystagmus (by about 6 months in congenital visual deprivation) has a poor visual prognosis. Rarely ever better than 6/36.[slideshare.net]
Tremor
  • In miners the eye movements are very rapid, increase on upward gaze, and are often associated with vertigo, head tremor, and photophobia.[medical-dictionary.thefreedictionary.com]
  • There are two variants of palatal myoclonus or tremor (1217). Essential palatal tremor presents with ear clicking from motion of the tensor veli palatini. There is no nystagmus or tremor of other muscles.[neuroophthalmology.ca]
  • […] typically 11-25 yrs) Cerebellar dysarthria Impaired swallowing Bladder dysfunction Eye movement (nystagmus), vision loss (5-15%) Loss of position and vibration sense (posterior column degeneration) Distal weakness (UMN degeneration) Movement disorders- tremors[pedclerk.bsd.uchicago.edu]
  • Spasmus nutans is a transient pendular nystagmus that occurs in children, accompanied by a head tremor and torticollus. It usually resolves spontaneously in 1-4 years.[tchain.com]
  • Acquired Pendular Nystagmus in Multiple Sclerosis Acquired Pendular Nystagmus in Oculopalatal Tremor The nystagmus of oculopalatal tremor (OPT) often causes severe intractable oscillopsia.[webeye.ophth.uiowa.edu]
Upbeat Nystagmus
  • Neurology, 60,2003, 344 Central nystagmus (downbeat, upbeat nystagmus, horizontal, torsional) Upbeat nystagmus (UBN).[tchain.com]
  • Toxic exposure is infrequent: gaze-evoked upbeat nystagmus is more common than primary position upbeat nystagmus with drug toxicity (1351).[neuroophthalmology.ca]
  • A jerk nystagmus is usually due to a motor defect that may be induced by brainstem or cerebellar lesions, drug intoxication ( upbeat nystagmus in which the fast phase is in the upward direction or downbeat nystagmus in which the fast phase is downward[medical-dictionary.thefreedictionary.com]
  • .: 4-aminopyridine restores visual ocular motor function in upbeat nystagmus, J Neurol Neurosurg Psychiatry 76:451-453, 2005. Frisén, L., Wikkelso, C.: Posttraumatic seesaw nystagmus abolished by ethanol ingestion, Neurology 36:841-844, 1986.[webeye.ophth.uiowa.edu]

Workup

  • 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]

Treatment

  • Treatment Treatment Options: Congenital nystagmus cannot be cured. However, several treatments may be beneficial. Glasses and contact lenses, and, occasionally, extraocular muscle surgery may be helpful.[disorders.eyes.arizona.edu]
  • Neurological medications and neurosurgical treatments can produce neuro-ophthalmological dysfunction that can be difficult to distinguish from disease progression.[books.google.com]
  • What treatments are available for Nystagmus? Unfortunately, there are not many good treatments for nystagmus. For some specific types, medicines can help and surgery can be used to improve certain features, but for most, little treatment exists.[rnib.org.uk]
  • Current treatments, such as prism glasses, acupuncture, electronic nerve stimulation, contact lenses, various drug treatments, and others have had limited success.[clinicaltrials.gov]

Prognosis

  • Diagnosis and Prognosis: Pediatricians and ophthalmologists are likely to make this diagnosis. It is important that complete physical and neurological examinations are done to rule out other conditions with which nystagmus is associated.[disorders.eyes.arizona.edu]
  • Prognosis - there is no progression.[patient.info]
  • Prognosis - Hereditary paroxysmal cerebral ataxia Not supplied. Treatment - Hereditary paroxysmal cerebral ataxia Not supplied. Resources - Hereditary paroxysmal cerebral ataxia Not supplied.[checkorphan.org]
  • Hereditary motor and sensory neuropathy: Roussy-Levy variant Carlevoix-Saguenay - early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy Infantile onset spinocerebellar ataxia- ataxia, opthalmoplegia, hearing loss Prognosis[pedclerk.bsd.uchicago.edu]

Etiology

  • Nystagmus can be physiologic or pathologic according to etiology.[omicsonline.org]
  • Etiology Congenital Disease/Diagnosis Familial Infantile Nystagmus Syndrome Treatment Surgical procedures for congenital nystagmus are discussed in ref 8 References 1..[collections.lib.utah.edu]
  • Eye injuries in childhood: demography, etiology, and prevention. Pediatrics. 1989;84:438–41. Copyright 2001 by the American Academy of Family Physicians. This content is owned by the AAFP.[aafp.org]
  • This is in contrast to other etiologies of congenital corneal clouding like Peter’s anomaly or a limbal dermoid, which can vary in size/location and often obscure underlying iris.[reviewofophthalmology.com]
  • The findings established several forms of spinal cord syrinxes with different etiologies and pathogenesis. Levine (2004) proposed a novel theory of the pathogenesis of syringomyelia associated with lesions at the foramen magnum.[genome.jp]

Epidemiology

  • Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998;75:497-504. 4. Al-Ghamdi A, Al-Rajhi A, Wagoner MD.[reviewofophthalmology.com]
Sex distribution
Age distribution

Pathophysiology

  • While this distinction may be conceptually correct, it does not always reflect the underlying pathophysiology.[aao.org]
  • Nystagmus Pathophysiology of Nystagmus An article on nystagmus Learning Objectives: to discuss the relationship between eye movements and clear vision. to understand three mechanisms that normally hold gaze steady: visual fixation, the vestibulo-ocular[lowvision.org]
  • Acquired pendular nystagmus: its characteristics, localizing value, and pathophysiology. J. Neurol Neurosurg Psych 1982:45:431-439 Stahl JS, Rottach KG, Averbuch-Heller L, Maydell RD, Collins SD, Leigh RJ.[tchain.com]
  • The pathophysiology is a result of inadequate endothelium, and treatment therefore requires replacing the endothelium.[reviewofophthalmology.com]
  • Ongoing genetic research continues to change the understanding of pathophysiology. Stargardt's disease and fundus flavimaculatus [ 3 ] There has been some question as to whether this condition is two diseases or one.[patient.info]

Prevention

  • Appropriate eye muscle surgery may be indicated when a significant head deviation is present to prevent secondary changes in neck muscles that may not be correctable later.[disorders.eyes.arizona.edu]
  • Causes - Hereditary paroxysmal cerebral ataxia * Dizziness * Dysarthria * Impaired balance * Incoordination * Migraine * Nystagmus * Slurred speech * Unsteadiness * Vertigo * Visual disturbance Prevention - Hereditary paroxysmal cerebral ataxia Not supplied[checkorphan.org]
  • Low Vision specialists also use special testing techniques during the refraction to measure the eyeglass prescription and prevent inaccurate results from latent nystagmus.[lowvision.org]
  • It is the leading cause of preventable blindness worldwide.[tsbvi.edu]
  • Accident Analysis and Prevention. 34 (3): 305–11. doi : 10.1016/S0001-4575(01)00027-6. PMID 11939359. External links [ edit ][en.wikipedia.org]

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