Timothy C. Hain, MD • Page last modified: August 26, 2020
Congenital nystagmus (CN) is a term which is applied a diverse group of abnormal eye movements which are noted at birth or shortly thereafter. Congenital nystagmus is included under the category of disorders of fixation because it can frequently present as a severe gaze-evoked nystagmus, and because it is often increased by attempts at fixation.
Congenital nystagmus is universal in albinism and also occurs in achromatopsia. Such patients usually show rounding of slow-phases, with convexity in the direction of gaze. Such "increasing exponential velocity profiles" are typical of congenital nystagmus.
- Movie of pendular type Congenital nystagmus in a partially Siamese cat.
With respect to albinism, CN can often be seen in white cats as well as white mammals. A movie of the author's partially Siamese cat (Sara) is shown above -- one can easily see her CN. Other albino animals - -such as the white tiger in the zoo, also show CN. Albinos have excessive crossing of the optic chiasm, and it is thought that this may impair stabilization of their eyes. (Erskine and Herrera, 2014).
Variants of albinism include oculocutaneous albinism (OCA). OCA is a group of autosomal recessive disorders caused by reduced or absent melanin synthesis resulting in hypopigmentation of skin, hair, and eyes. The prevalence of OCA is approximately 1 in 17,000 and can affect individuals of all ethnic backgrounds (Abalem et al, 2018)
The differential diagnosis of OCA includes Hermansky-Pudiak syndrome (HPS), Chediak-Higashi syndrome (CHS), and Griscelli syndrome, all autosomal recessive disorders linked to frequent infections or abnormal bleeding. HPS is most common in Puerto Rico; affected patients have both OCA characteristics as well as platelet dysfunction. the Griscelli syndrome patients have partial albinism, a silvery-grey sheen to their hair, and may present with primary neurologic impairment or immunodeficiency (Abalem et al, 2018)
CN is often (although not always - -see torsional movie above) a dramatic nystagmus, difficult to miss if one looks at the eyes at all. No special procedure is required to elicit congenital nystagmus, other than that described for registration of gaze-evoked nystagmus, saccades or spontaneous nystagmus. The saccade protocol is most suitable because CN often varies with orbital position and is strongest in the light.
Once again, congenital nystagmus, contrary to vestibular nystagmus, is generally increased by fixation and reduced in the dark. This is an important distinguishing feature. The best way to figure this out is to use video frenzel gogles.
In this movie of jerk type Congenital nystagmus in dark (3 megabytes), the same patient as above is being recorded with a video system in complete darkness. Note that the nystagmus has nearly abated.
Another typical feature of congenital nystagmus is that there is often a "null". This is a position of the eyes in the orbit where the eyes are nearly still. You can spot the null because the fast phases of the nystagmus go different directions on either side of the null. Often people with CN adopt a head posture which allows them to put their eyes into this "null", to improve their visual acuity.
Persons with CN generally do as well in life as persons without CN. Ordinary testing for dizziness (such as an ENG or rotatory chair testing) is difficult to interpret in persons with CN, and generally we tend to avoid doing it, except in difficult cases.
The following three traces are from a patient with CN due to an early life visual disorder.
|CN: Much stronger nystagmus is typical in the light (fixation) than in the dark. This is the easiest way to tell CN from nearly any other type of nystagmus.|
|CN: horizontal pursuit is interrupted by strong nystagmus|
|CN: OKN may be absent (as here) or inverted (see below)|
Some patients with CN have a very specific oculomotor finding - - reversed pursuit (or OKN) in the horizontal plane. This finding is attributed to shifting of the null point for the nystagmus, but practically it is just called reversed pursuit (or OKN). (Levlevier and Barber, 1981)
|"reversed" pursuit in horizontal plane (top) but normal pursuit in vertical plane. Image courtesy of Dr. Dario Yacovino.|
|"reversed" OKN in the horizontal plane. Actually the eyes are going so fast on the left it is hard to tell what is going on. On the right, it appears that the fast phases are to the right, even though the stimulus is going to the right, or in other words, this is reversed. Note also that the eyes start slow and then get faster and faster (inverse exponential slow phases).|
Generally diagnosis of CN is easily made by observing a typical nystagmus as described above, obtaining a history of nystagmus since an early age, and noticing that the nystagmus is decreased in the dark.
Nevertheless, there are several types of acquired nystagmus that appear similar to congenital nystagmus.
Nystagmus of the blind is a constantly present nystagmus which may undergo periodic changes in direction, similar to PAN (see below). It may be jerk or pendular, but we have mainly seen jerk. We have only seen nystagmus of the blind in persons who are completely blind (i.e. little bits of vision seems to be enough to suppress it).
Periodic alternating nystagmus (PAN) may also resemble jerk type CN. The congenital form usually has a short cycle as shown in this movie. This individual's cycle is about 2 seconds, while the usual type of aquired PAN has a cycle of about 200 seconds.
Spasmus Nutans. Notice the pendular nystagmus, about 1 cycle/second. Recording method: ENG. (c) Timothy C. Hain, M.D.
Spasmus nutans (see figure above)
SN consists of a pendular, dysconjugate nystagmus accompanied by head-nodding, which occurs in children. Ocular recordings in patients with spasmus nutans may show a phase difference between oscillations in each eye, or in other words, may dissociated. Spasmus nutans usually remits within 1-2 years of onset although it may persist for eight years or more.
Similar acquired pendular nystagmus in adults can be caused by multiple sclerosis, and follow brainstem infarcts. An example is oculopalatal myoclonus syndrome.
Acquired pendular nystagmus may have components about any axis - -horizontal, vertical or torsional. Sometimes it is present in both horizontal and vertical planes, creating a diagonal or elliptical pattern. Ellipses are due to two sine-waves that have different phases. While there probably is a combination of torsional with horizontal/vertical plane, the resulting "elliptical" nystagmus has never been reported.
Differences in phase or amplitude between eyes is often seen in acquired pendular nystagmus. Acquired pendular nystagmus may be temporarily suppressed by saccades.
Occasional central nystagmus patterns, such as those related to Wernicke's encephalopathy, may have increasing-exponential velocity profiles similar to those seen in some forms of congenital nystagmus.
Occasional central nystagmus patterns may also present simply with a primary position nystagmus (such as this torsional nystagmus due to a midbrain lesion).
An autosomal dominant pedigree linked to chromosome 6p12 was recently described (Kerrison JB et al, 1998).
One must be cautious when using infrared oculography for registration of congenital nystagmus and gaze-evoked nystagmus because artifact due to transducer nonlinearity can cause an ordinary gaze-evoked nystagmus to resemble the increasing exponential pattern described above. Care must be also taken that an unusually intense gaze-evoked nystagmus (usually due to a cerebellar problem) is not mistaken for congenital nystagmus. A distinguishing factor here is that CN generally is present in central gaze, while gaze-evoked nystagmus is generally not. However, even this rule can be broken in persons with a combined vestibular nystagmus and gaze-evoked (i.e. Alexander's law).
Latent nystagmus is a common variant of congenital nystagmus. It is a frequent source of errors when testing dizzy patients. See the dedicated page on LN for more.
Gabapentin is often useful in reducing the speed of congenital nystagmus. Gabapentin increases an inhitory neurotransmitter used in oculomotor function. We nearly always offer the option of taking gabapentin to patients with CN in our clinic setting in Chicago. In theory, similar drugs (such as Lyrica) would work too.
Recently, it has also been reported that Memantine (an agent which acts on asparate, glutamate and dopamine) is also helpful in CN (Mclean et al, 2007). Glutamate is a major excitatory neurotransmitter. Memantine was used in doses of 40 mg -- greater than is commonly prescribed for other uses. We have not had any success at all with Memantine for this purpose in our clinic. Memantine, of course, is ordinarily used for dementia. It seems to us that gabapentin is inexpensive and works well for CN, while memantine is expensive and doesn't work at all.
Surgical treatment is also sometimes offered -- mainly involving moving the eye so that the "null" is located more centrally. We have not found this to be very helpful.