Nystagmus | |
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Other names | Dancing eyes, Instabilitas oculorum |
Horizontal optokinetic nystagmus, a normal (physiological) form of nystagmus | |
Specialty | Neurology, ophthalmology, optometry |
Nystagmus is a condition of involuntary (or voluntary, in some cases) [1] eye movement. [2] People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. [3]
In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. [4] The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. [5]
There are two key forms of nystagmus: pathological and physiological, with variations within each type. Nystagmus may be caused by congenital disorder or sleep deprivation, acquired or central nervous system disorders, toxicity, pharmaceutical drugs, alcohol, or rotational movement. Previously considered untreatable, in recent years several drugs have been identified for treatment of nystagmus. [6] Nystagmus is also occasionally associated with vertigo.
The cause of pathological nystagmus may be congenital, idiopathic, or secondary to a pre-existing neurological disorder. It also may be induced temporarily by disorientation (such as on roller coaster rides or when a person has been spinning in circles) or by some drugs (alcohol, lidocaine, and other central nervous system depressants, inhalant drugs, stimulants, psychedelics, and dissociative drugs).
Early-onset nystagmus occurs more frequently than acquired nystagmus. It can be insular or accompany other disorders (such as micro-ophthalmic anomalies or Down syndrome). Early-onset nystagmus itself is usually mild and non-progressive. The affected persons are usually unaware of their spontaneous eye movements, but vision can be impaired depending on the severity of the eye movements.
Types of early-onset nystagmus include the following, along with some of their causes:
X-linked infantile nystagmus is associated with mutations of the gene FRMD7, which is located on the X chromosome. [7] [8]
Infantile nystagmus is also associated with two X-linked eye diseases known as complete congenital stationary night blindness (CSNB) and incomplete CSNB (iCSNB or CSNB-2), which are caused by mutations of one of two genes located on the X chromosome. In CSNB, mutations are found in NYX (nyctalopin). [9] [10] CSNB-2 involves mutations of CACNA1F, a voltage-gated calcium channel that, when mutated, does not conduct ions. [11]
Nystagmus that occurs later in childhood or in adulthood is called acquired nystagmus. The cause is often unknown, or idiopathic, and thus referred to as idiopathic nystagmus. Other common causes include diseases and disorders of the central nervous system, metabolic disorders and alcohol and drug toxicity. In the elderly, stroke is the most common cause.
Some of the diseases that present nystagmus as a pathological sign or symptom are as follows:
Sources of toxicity that could lead to nystagmus:
Risk factors for thiamine deficiency, or beriberi, in turn include a diet of mostly white rice, as well as alcoholism, dialysis, chronic diarrhea, and taking high doses of diuretics. [14] [15] Rarely it may be due to a genetic condition that results in difficulties absorbing thiamine found in food. [14] Wernicke encephalopathy and Korsakoff syndrome are forms of dry beriberi. [15]
Central nervous system disorders such as with a cerebellar problem, the nystagmus can be in any direction including horizontal. Purely vertical nystagmus usually originates in the central nervous system, but it is also an adverse effect commonly seen in high phenytoin toxicity. Other causes of toxicity that may result in nystagmus include:
Nystagmus is highly noticeable but rarely recognized. Nystagmus can be clinically investigated by using a number of non-invasive standard tests. The simplest one is the caloric reflex test, in which one ear canal is irrigated with warm or cold water or air. The temperature gradient provokes the stimulation of the horizontal semicircular canal and the consequent nystagmus. Nystagmus is often very commonly present with Chiari malformation.
The resulting movement of the eyes may be recorded and quantified by a special device called an electronystagmograph (ENG), a form of electrooculography (an electrical method of measuring eye movements using external electrodes), [20] or an even less invasive device called a videonystagmograph (VNG), [21] a form of video-oculography (VOG) (a video-based method of measuring eye movements using external small cameras built into head masks), administered by an audiologist. Special swinging chairs with electrical controls can be used to induce rotatory nystagmus. [22]
Over the past forty years, objective eye-movement-recording techniques have been applied to the study of nystagmus, and the results have led to greater accuracy of measurement and understanding of the condition.
Orthoptists may also use an optokinetic drum, or electrooculography or Frenzel goggles to assess a patient's eye movements.
Nystagmus can be caused by subsequent foveation of moving objects, pathology, sustained rotation or substance use. Nystagmus is not to be confused with other superficially similar-appearing disorders of eye movements (saccadic oscillations) such as opsoclonus or ocular flutter that are composed purely of fast-phase (saccadic) eye movements, while nystagmus is characterized by the combination of a smooth pursuit, which usually acts to take the eye off the point of focus, interspersed with the saccadic movement that serves to bring the eye back on target. Without the use of objective recording techniques, it may be very difficult to distinguish among these conditions.
In medicine, the presence of nystagmus can be benign, or it can indicate an underlying visual or neurological problem. [23]
Pathological nystagmus is characterized by "excessive drifts of stationary retinal images that degrades vision and may produce illusory motion of the seen world: oscillopsia (an exception is congenital nystagmus)". [24]
When nystagmus occurs without fulfilling its normal function, it is pathologic (deviating from the healthy or normal condition). Pathological nystagmus is the result of damage to one or more components of the vestibular system, including the semicircular canals, otolith organs, and the vestibulocerebellum.[ contradictory ]
Pathological nystagmus generally causes a degree of vision impairment, although the severity of such impairment varies widely. Also, many blind people have nystagmus, which is one reason that some wear dark glasses. [25] [ better source needed ]
Physiological nystagmus is a form of involuntary eye movement that is part of the vestibulo-ocular reflex (VOR), characterized by alternating smooth pursuit in one direction and saccadic movement in the other direction.
The direction of nystagmus is defined by the direction of its quick phase (e.g. a right-beating nystagmus is characterized by a rightward-moving quick phase, and a left-beating nystagmus by a leftward-moving quick phase). The oscillations may occur in the vertical, [28] horizontal or torsional planes, or in any combination. The resulting nystagmus is often named as a gross description of the movement, e.g. downbeat nystagmus, upbeat nystagmus, seesaw nystagmus, periodic alternating nystagmus.
These descriptive names can be misleading, however, as many were assigned historically, solely on the basis of subjective clinical examination, which is not sufficient to determine the eyes' true trajectory.
Congenital nystagmus has long been viewed as untreatable, but medications have been discovered that show promise in some patients. In 1980, researchers discovered that a drug called baclofen could stop periodic alternating nystagmus. Subsequently, gabapentin, an anticonvulsant, led to improvement in about half the patients who took it. Other drugs found to be effective against nystagmus in some patients include memantine, [31] levetiracetam, 3,4-diaminopyridine (available in the US to eligible patients with downbeat nystagmus at no cost under an expanded access program [32] [33] ), 4-aminopyridine, and acetazolamide. [34] Several therapeutic approaches, such as contact lenses, [35] drugs, surgery, and low vision rehabilitation have also been proposed. For example, it has been proposed that mini-telescopic eyeglasses suppress nystagmus. [36]
Surgical treatment of congenital nystagmus is aimed at improving head posture, simulating artificial divergence, or weakening the horizontal recti muscles. [37] Clinical trials of a surgery to treat nystagmus (known as tenotomy) concluded in 2001. Tenotomy is now being performed regularly at numerous centres around the world. The surgery aims to reduce the eye oscillations, which in turn tends to improve visual acuity. [38]
Acupuncture tests have produced conflicting evidence on its beneficial effects on the symptoms of nystagmus. Benefits have been seen in treatments in which acupuncture points of the neck were used, specifically points on the sternocleidomastoid muscle. [39] [40] Benefits of acupuncture for treatment of nystagmus include a reduction in frequency and decreased slow phase velocities, which led to an increase in foveation duration periods both during and after treatment. [40] By the standards of evidence-based medicine, the quality of these studies is poor (for example, Ishikawa's study had sample size of six subjects, was unblinded, and lacked proper controls), and given high quality studies showing that acupuncture has no effect beyond placebo,[ citation needed ] the results of these studies have to be considered clinically irrelevant until higher quality studies are performed.
Physical or occupational therapy is also used to treat nystagmus. Treatment consists of learning strategies to compensate for the impaired system.[ citation needed ]
A Cochrane Review on interventions for eye movement disorders due to acquired brain injury, updated in June 2017, identified three studies of pharmacological interventions for acquired nystagmus but concluded that these studies provided insufficient evidence to guide treatment choices. [41]
Nystagmus is a relatively common clinical condition, affecting one in several thousand people. A survey conducted in Oxfordshire, United Kingdom, found that by the age of two, one in every 670 children had manifested nystagmus. [3] Authors of another study in the United Kingdom estimated an incidence of 24 in 10,000 (c. 0.240%), noting an apparently higher rate amongst white Europeans than in individuals of Asian origin. [42]
In the United States, testing for horizontal gaze nystagmus is one of a battery of field sobriety tests used by police officers to determine whether a suspect is driving under the influence of alcohol. Horizontal gaze nystagmus will show if a subject is under the influence of a central nervous system depressant, an inhalant, or a dissociative anesthetic. The test involves observation of the suspect's pupil as it follows a moving object, noting
The horizontal gaze nystagmus test has been highly criticized and major errors in the testing methodology and analysis found. [43] [44] However, the validity of the horizontal gaze nystagmus test for use as a field sobriety test for persons with a blood alcohol level between 0.04 and 0.08[ clarification needed ] is supported by peer-reviewed studies and has been found to be a more accurate indication of blood alcohol content than other standard field sobriety tests. [45]
My Dancing Eyes, a documentary by filmmaker Matt Morris, had participants explain what it is like to live with the eye condition, and was released for free. It was featured on NBN News, and ABC Radio Newcastle, in Australia.
The vestibulo-ocular reflex (VOR) is a reflex that acts to stabilize gaze during head movement, with eye movement due to activation of the vestibular system. The reflex acts to stabilize images on the retinas of the eye during head movement. Gaze is held steadily on a location by producing eye movements in the direction opposite that of head movement. For example, when the head moves to the right, the eyes move to the left, meaning the image a person sees stays the same even though the head has turned. Since slight head movement is present all the time, VOR is necessary for stabilizing vision: people with an impaired reflex find it difficult to read using print, because the eyes do not stabilise during small head tremors, and also because damage to reflex can cause nystagmus.
The vestibular system, in vertebrates, is a sensory system that creates the sense of balance and spatial orientation for the purpose of coordinating movement with balance. Together with the cochlea, a part of the auditory system, it constitutes the labyrinth of the inner ear in most mammals.
Benign paroxysmal positional vertigo (BPPV) is a disorder arising from a problem in the inner ear. Symptoms are repeated, brief periods of vertigo with movement, characterized by a spinning sensation upon changes in the position of the head. This can occur with turning in bed or changing position. Each episode of vertigo typically lasts less than one minute. Nausea is commonly associated. BPPV is one of the most common causes of vertigo.
Oscillopsia is a visual disturbance in which objects in the visual field appear to oscillate. The severity of the effect may range from a mild blurring to rapid and periodic jumping. Oscillopsia is an incapacitating condition experienced by many patients with neurological disorders. It may be the result of ocular instability occurring after the oculomotor system is affected, no longer holding images steady on the retina. A change in the magnitude of the vestibulo-ocular reflex due to vestibular disease can also lead to oscillopsia during rapid head movements. Oscillopsia may also be caused by involuntary eye movements such as nystagmus, or impaired coordination in the visual cortex and is one of the symptoms of superior canal dehiscence syndrome. Those affected may experience dizziness and nausea. Oscillopsia can also be used as a quantitative test to document aminoglycoside toxicity. Permanent oscillopsia can arise from an impairment of the ocular system that serves to maintain ocular stability. Paroxysmal oscillopsia can be due to an abnormal hyperactivity in the peripheral ocular or vestibular system.
Electronystagmography (ENG) is a diagnostic test to record involuntary movements of the eye caused by a condition known as nystagmus. It can also be used to diagnose the cause of vertigo, dizziness or balance dysfunction by testing the vestibular system. Electronystagmography is used to assess voluntary and involuntary eye movements. It evaluates the cochlear nerve and the oculomotor nerve. The ENG can be used to determine the origin of various eye and ear disorders.
Vertigo is a condition in which a person has the sensation of movement or of surrounding objects moving when they are not. Often it feels like a spinning or swaying movement. It may be associated with nausea, vomiting, perspiration, or difficulties walking. It is typically worse when the head is moved. Vertigo is the most common type of dizziness.
Parinaud's syndrome is a constellation of neurological signs indicating injury to the dorsal midbrain. More specifically, compression of the vertical gaze center at the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF).
In medicine, the caloric reflex test is a test of the vestibulo-ocular reflex that involves irrigating cold or warm water or air into the external auditory canal. This method was developed by Robert Bárány, who won a Nobel prize in 1914 for this discovery.
The Dix–Hallpike or Nylén–Bárány test is a diagnostic maneuver from the group of rotation tests used to identify benign paroxysmal positional vertigo (BPPV).
Conjugate gaze palsies are neurological disorders affecting the ability to move both eyes in the same direction. These palsies can affect gaze in a horizontal, upward, or downward direction. These entities overlap with ophthalmoparesis and ophthalmoplegia.
A horizontal gaze palsy is a subtype of gaze palsy in which conjugate, horizontal eye movements are limited by neurologic deficits. Horizontal gaze palsies typically result from an ipsilateral pontine lesion or a contralateral frontal lobe lesion.
Infantile esotropia is an ocular condition of early onset in which one or either eye turns inward. It is a specific sub-type of esotropia and has been a subject of much debate amongst ophthalmologists with regard to its naming, diagnostic features, and treatment.
Dissociated vertical deviation (DVD) is an eye condition which occurs in association with a squint, typically infantile esotropia. The exact cause is unknown, although it is logical to assume it is from faulty innervation of eye muscles.
The semicircular canal dehiscence (SCD) is a category of rare neurotological diseases/disorders affecting the inner ears, which gathers the superior SCD, lateral SCD and posterior SCD. These SCDs induce SCD syndromes (SCDSs), which define specific sets of hearing and balance symptoms. This entry mainly deals with the superior SCDS.
The term gaze is frequently used in physiology to describe coordinated motion of the eyes and neck. The lateral gaze is controlled by the paramedian pontine reticular formation (PPRF). The vertical gaze is controlled by the rostral interstitial nucleus of medial longitudinal fasciculus and the interstitial nucleus of Cajal.
Vestibulocerebellar syndrome, also known as vestibulocerebellar ataxia, is a progressive neurological disorder that causes a variety of medical problems. Initially symptoms present as periodic attacks of abnormal eye movements but may intensify to longer-lasting motor incapacity. The disorder has been localized to the vestibulocerebellum, specifically the flocculonodular lobe. Symptoms of vestibulocerebellar syndrome may appear in early childhood but the full onset of neurological symptoms including nystagmus, ataxia, and tinnitus does not occur until early adulthood. To date, vestibulocerebellar syndrome has only been identified in three families but has affected multiple generations within them. Based on the familial pedigrees it has been characterized as an autosomal dominant disorder, although the exact genetic locus has not been identified. It has been found to be genetically distinct from other seemingly similar forms of neurological syndromes such as episodic ataxia types 1 and 2. Due to its rarity, however, little is known about specific details of the pathology or long-term treatment options. There is currently no cure for vestibulocerebellar syndrome, although some drug therapies have been effective in alleviating particular symptoms of the disorder.
The righting reflex, also known as the labyrinthine righting reflex, is a reflex that corrects the orientation of the body when it is taken out of its normal upright position. It is initiated by the vestibular system, which detects that the body is not erect and causes the head to move back into position as the rest of the body follows. The perception of head movement involves the body sensing linear acceleration or the force of gravity through the otoliths, and angular acceleration through the semicircular canals. The reflex uses a combination of visual system inputs, vestibular inputs, and somatosensory inputs to make postural adjustments when the body becomes displaced from its normal vertical position. These inputs are used to create what is called an efference copy. This means that the brain makes comparisons in the cerebellum between expected posture and perceived posture, and corrects for the difference. The reflex takes 6 or 7 weeks to perfect, but can be affected by various types of balance disorders.
Oculomotor apraxia (OMA) is the absence or defect of controlled, voluntary, and purposeful eye movement. It was first described in 1952 by the American ophthalmologist David Glendenning Cogan. People with this condition have difficulty moving their eyes horizontally and moving them quickly. The main difficulty is in saccade initiation, but there is also impaired cancellation of the vestibulo-ocular reflex. Patients have to turn their head in order to compensate for the lack of eye movement initiation in order to follow an object or see objects in their peripheral vision, but they often exceed their target. There is controversy regarding whether OMA should be considered an apraxia, since apraxia is the inability to perform a learned or skilled motor action to command, and saccade initiation is neither a learned nor a skilled action.
Childhood cataract is cataract that occurs at birth or in childhood. It may be congenital or acquired.
Vestibular rehabilitation (VR), also known as vestibular rehabilitation therapy (VRT), is a specialized form of physical therapy used to treat vestibular disorders or symptoms, characterized by dizziness, vertigo, and trouble with balance, posture, and vision. These primary symptoms can result in secondary symptoms such as nausea, fatigue, and lack of concentration. All symptoms of vestibular dysfunction can significantly decrease quality of life, introducing mental-emotional issues such as anxiety and depression, and greatly impair an individual, causing them to become more sedentary. Decreased mobility results in weaker muscles, less flexible joints, and worsened stamina, as well as decreased social and occupational activity. Vestibular rehabilitation therapy can be used in conjunction with cognitive behavioral therapy in order to reduce anxiety and depression resulting from an individual's change in lifestyle. However, there is often confusion about whether vestibular rehabilitation falls under physical therapy (PT) or occupational therapy (OT).