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]
Inheritance - congenital achromatopsia is transmitted in an autosomal-recessive trait Presentation - patients present in early childhood with nystagmus, abnormal visual behaviour or photophobia. Acuity is less than 20/200. [patient.info]
Entire Body System
- Movement Disorder
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]
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]
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]
vision loss (5-15%) Loss of position and vibration sense (posterior column degeneration) Distal weakness (UMN degeneration) Movement disorders- tremors, dystonia, chorea 1 PNS : degeneration of large sensory cells in dorsal root ganglion Sensory neuropathy [pedclerk.bsd.uchicago.edu]
Functional basis of ocular motility disorders. Oxford: Pergamon Press 1982: 129–38. 2 Jan JE, Farrell K, Wong PK, McCormick AQ : Eye and head movements of visually impaired children. [nature.com]
- Weakness
[…] atrophy leading to: Wheelchair confinement (95%, 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 [pedclerk.bsd.uchicago.edu]
Each had variable clinical features, including segmental loss of pain and temperature sensation, muscle weakness and atrophy of the upper limbs and hands, nystagmus, urinary incontinence, and lower limb hyperreflexia and spasticity. [genome.jp]
Progressive external ophthalmoplegia (PEO) is characterized by weakness of the eye muscles. [blueprintgenetics.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]
An adduction weakness on conjugate movements and a jerk nystagmus of the abducting eye are the classic ocular motor signs (‘dissociated nystagmus’). [ncbi.nlm.nih.gov]
Skin
- Macula
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]
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]
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]
Musculoskeletal
- 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]
Eyes
- Strabismus
Strabismus in Adults Although strabismus is much more common in children, many adults have strabismus, either since childhood or developed in adult life. [shileyeye.ucsd.edu]
[…] may develop as a result of strabismus). [dukehealth.org]
Simon also served a fellowship in pediatric ophthalmology and strabismus at the Wills Eye Hospital, Philadelphia. ... PAMELA KAW, M.D., is a fellow in pediatric ophthalmology and strabismus at Albany Medical College. [aafp.org]
Effects on vision may include decreased visual acuity, photophobia, nystagmus, and strabismus. ANIRIDIA Aniridia is a hereditary condition where the iris of the eye is underdeveloped. [nfb.org]
Strabismus 22: 81-85. Brodsky MC, Dell'Osso LF2 (2014) A unifying neurologic mechanism for infantile nystagmus. JAMA Ophthalmol 132: 761-768. [omicsonline.org]
- Esotropia
Esotropia The most common type of strabismus is esotropia, which occurs when either one or both eyes turn in toward the nose. Some children are born with this condition. More frequently, it starts at about age 2 1/2. [shileyeye.ucsd.edu]
It is often seen in patients with congenital esotropia and following surgery for infantile esotropia, probably resulting from subnormal binocular interaction. [emedicine.medscape.com]
An infant with a constant large-angle esotropia can be referred even earlier. [aafp.org]
Epicanthus can obscure the inner canthus giving rise to the appearance of esotropia when none is present. [slideshare.net]
- Visual Acuity Decreased
Effects on vision include decreased visual acuity, decreased central vision, decreased sensitivity in all visual fields, and nystagmus. OPTIC NERVE HYPOPLASIA (ONH) ONH is generally of unknown cause. [nfb.org]
May have decreased visual acuity May have better acuity In one eye than in the other May have nystagmus May have strabismus May have variable field restrictions Visual perception may be impaired High illumination High contrast Enlarged printed materials [tsbvi.edu]
Psychiatrical
- Psychomotor Retardation
Three groups of patients with INS were individualized: group 1 (n=34) - neurologic nystagmus (associated with neurological context: fetal suffering, psychomotor retardation, epilepsy.); group 2 (n=23) - sensory nystagmus (with disease of visual system [iovs.arvojournals.org]
Neurologic
- Nystagmus
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]
If the nystagmus is horizontal, the eye movement is usually "to-and-fro". [disorders.eyes.arizona.edu]
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]
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]
- Involuntary Movements
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]
Typical head tilt in a DSH female with Vestibular syndrome and secondary nystagmus Nystagmus is a neurological disease where there is an involuntary movement of one of both eyes. [vetbook.org]
Nystagmus, a condition in which the eye has rhythmic and involuntary movement or oscillation, is often caused by an underlying neurological or ocular disorder. [livestrong.com]
Nystagmus is a classified eye disease where the patient experiences an involuntary movement of the eyes in which they oscillate from side to side, up and down or even in a circular motion. [simmonsoptometrists.co.uk]
- 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]
SPONTANEOUS NYSTAGMUS Vestibular imbalance nystagmus Acquired pendular nystagmus Horizontal Vertical See-saw Congenital Nystagmus Latent nystagmus (LN) Pendular type Jerk type Convergence/Retraction nystagmus Divergence nystagmus Periodic alternating [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]
An acquired pendular nystagmus can occur in any plane; it can be monocular or have a greater intensity in one eye and typically remains pendular in all directions of gaze. [ncbi.nlm.nih.gov]
- Dizziness
Symptoms - Hereditary paroxysmal cerebral ataxia The list of signs and symptoms mentioned in various sources for Episodic ataxia, type 2 includes the 10 symptoms listed below: * Dizziness * Unsteadiness * Incoordination * Impaired balance * Slurred speech [checkorphan.org]
dizziness, incoordination Lethargy, dizziness, headache Periodic Alternating Nystagmus Baclofen (5-10mg, tid) Memantine (5-10mg, qid) Drowsiness, dizziness, lethargy Lethargy, dizziness, headache Acquired Pendular Nystagmus in MS Gabapentin (300mg, [webeye.ophth.uiowa.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]
Nystagmus acquired later in life may cause vertigo or dizziness like effects from the sensation of motion in the vision. Nystagmus may decrease when the eyes converge to read. [lowvision.org]
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]
- Paresis
Less common pontine lesions may have INO (1242,1361), and midbrain lesions may have vertical gaze paresis (1359). [neuroophthalmology.ca]
In about 85% of the cases, the nystagmus is horizontal with the fast component directed towards the healthy hearing ear, suggesting a vestibular paresis on the side to which the slow phases are directed. [tchain.com]
Other complaints such as convulsions, growth retardation, paralysis or paresis of the extremities, presence of convulsions, use of medication, history of surgery and other complaints are needed to be asked in detail. [omicsonline.org]
Workup
This innovative one-page format provides the definition, differential diagnosis, workup and diagnosis, and treatment options for nearly 170 diseases and disorders. [books.google.com]
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]
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]
At present, there is no treatment for this condition. [afb.org]
Prognosis
Prognosis - there is no progression. [patient.info]
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 - 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]
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]
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]
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]
Treatment consist of learning compensatory strategies to take over for the impaired system. [ citation needed ] Epidemiology [ edit ] Nystagmus is a relatively common clinical condition, affecting one in several thousand people. [en.wikipedia.org]
Pathophysiology
Research over the past three decades has led to better understanding of the pathophysiology of acquired forms of nystagmus, suggesting drug therapies. [ncbi.nlm.nih.gov]
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]
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]
Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]
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]