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Hereditary Nystagmus in Early Childhood J Med Genet: first published as 10.1136/jmg.7.3.253 on 1 September 1970. Downloaded from Journal of Medical Genetics (1970). 7, 253. Hereditary Nystagmus in Early Childhood BRIAN HARCOURT* Nystagmus is defined as a rhythmic involuntary clinical characteristics of various types of hereditary movement of the eyes, and as an acquired pheno- nystagmus and the techniques which are available menon arising in later childhood or in adult life is to differentiate between 'idiopathic' nystagmus and usually a symptom of serious neurological or laby- nystagmus as a symptom of an occult disorder of the rinthine disease; in such cases the movements of the visual apparatus in early childhood, some descrip- eyes commonly produce subjective symptoms of tion of the modes of inheritance and of the long- objects moving in the visual panorama (oscillopsia). term visual prognosis are given in the various Nystagmus may also be 'congenital', or, more categories of infantile nystagmus which can be so accurately, may first be observed within a few weeks defined. of birth when the infant begins to attempt to fix and to follow visually stimulating targets by means of Character of Nystagmus conjugate movements of the eyes. In such cases, Though it is not usually possible to arrive at the nystagmus may persist throughout life, but even an exact diagnosis of the cause of nystagmus by ob- at a later stage there is always a complete absence of servation of the eye movements alone, a great deal of the symptom of oscillopsia. Nystagmus which useful information can be obtained by such a study. presents in early infancy is often hereditarily de- The important points are a determination of the termined, and its aetiology is variable, for it may direction of the nystagmus (which is arbitrarily de- copyright. be a symptom of a serious disorder affecting the fined as the direction of the fast component), the eyes or the visual pathways, or the central nervous differentiation between pendular and jerky nystag- system. In particular, such clinically obvious affec- mus, and the distinction between disturbances of the tions as total albinism, aniridia, and dense cataracts fixation reflexes and of the gaze mechanisms. Pen- induce nystagmus at a very early age. In the majority dular nystagmus has equal speed in both directions; of cases, however, no gross abnormality of the eyes jerky nystagmus has a fast and a slow component. is observed on routine clinical examination of the Fixation nystagmus is present in forward gaze as http://jmg.bmj.com/ affected infant, and no other abnormality of the well as in other directions of gaze, whereas gaze central nervous system can be discerned. In many nystagmus is present only in certain lateral or verti- such cases the nystagmus is then an isolated pheno- cal fields of gaze, and is always an acquired pheno- menon due to some as yet undetermined develop- menon. In later childhood and in adult life exact mental anomaly in the central nervous mechanism objective records of the characteristics of the concerned with 'steady fixation' of the eyes; such nystagmus in any case can be made using the tech- nystagmus is said to be 'extra-ocular' or 'idiopathic'. nique of nystagmography, the phenomenon of There is, however, a residue ofcases in which in early changing electrical potentials between skin elec- on September 27, 2021 by guest. Protected childhood the nystagmus is in fact due to an heredi- trodes situated above, medially, inferiorly, and tarily determined disorder of the visual apparatus which is not laterally to the eyes, with movements of the eyes apparent on cursory ophthalmological being employed to give a permanent record of the examination, and which may follow a progressive ocular oscillations. In infants or young course. The long-term visual prognosis in such children cases is much below the age of 4 years this technique is unsuitable, usually worse than in cases of idio- and reliance has to be placed on skilled clinical pathic nystagmus, and it is therefore very important observation, possibly supplemented by cinemato- from the point of view of genetic counselling that graphy; the film of these specific ocular causes of nystagmus should be the eye movements then being diagnosed at an early age. After projected in slow motion to allow further study. describing the Observations of the involuntary eye movements by these techniques will first allow a differentiation between fixation and gaze nystagmus, and in early * Address: Ophthalmic Department, General Infirmary, Leeds. childhood fixation nystagmus is by far the commoner 253 J Med Genet: first published as 10.1136/jmg.7.3.253 on 1 September 1970. Downloaded from 254 Brian Harcourt variety. Secondly, inspection will differentiate be- are Leber's congenital amaurosis (retinal aplasia), tween a primarily pendular and a jerky nystagmus, congenital cone dysfunction (achromatopsia with this last observation being of great diagnostic im- amblyopia), the form of optic atrophy which is in- portance. herited as an autosomal recessive characteristic, Types of Hereditary Nystagmus ocular albinism, and macular hypoplasia. The dif- ferentiation of these conditions in infancy is facili- (a) Congenital jerky nystagmus. This variety tated by combining a thorough examination of the of nystagmus constitutes the classical form of here- ocular media and fundi with the pupils fully dilated ditary nystagmus, and is often termed 'idiopathic under general anaesthesia with various electro- familial nystagmus'; the ocular oscillations are physiological investigations which are modifications noted within the first few days of birth. The nys- of the standard techniques of electroretinography. tagmus is most commonly horizontal and is present in all directions of gaze, but with a point of reversal Electroretinography. When the healthy retina is of the fast component which is usually asym- stimulated by a bright flash of light, a complex series of metric, in which the nystagmus is minimal so that changes is induced in the electrical potential of the the child tends to adopt an abnormal compensatory retinal elements. The sum of these changes can be de- head posture because of the improved vision tected by placing an active electrode on the cornea by which is obtained in that position. The nystagmus means of a contact lens, and earth and reference elec- is usually reduced in amplitude when the eyes are trodes on the skin of the face. When amplified and converged so that near vision is much more acute recorded these changes are summated as the electro- than distance retinogram (ERG) which has two principal features; an vision. Because of this, affected initial a-wave of negative potential and a subsequent children are often capable of education in a class b-wave of positive potential. The total amplitude of the for the normally sighted (despite a corrected dis- normal response in the dark adapted eye is about 250 tance visual acuity of 6/36 or less), provided that microvolts, and the changes in potential occur within 200 they are allowed to learn mainly from books rather millisec. of the light stimulus. Experiments have shown than from the blackboard. The amplitude of the that the a-wave is due principally to change occurring in nystagmus tends if anything to become reduced as the electrical potential ofthe outer segments ofthe retinalcopyright. age increases, so that the long-term visual prognosis receptors, and the b-wave to changes in the retinal bi- is fairly favourable. This type of nystagmus, as is polar cells, the clinical ERG representing the summation the case in all varieties of jerky nystagmus, is not of the changes occurring in the entire retina. In early the childhood the investigation must be carried out under result of a disorder of the eyes, which are entirely general anaesthesia in order to maintain a steady contact healthy, but rather of a defect in the ocular posture between the cornea and the active electrode in the con- as the result of abnormal development of the com- tact lens and also to overcome the child's natural appre- plex centres of the brain-stem which are concerned hension. The standard ERG in the dark adapted state http://jmg.bmj.com/ with the 'steady fixation' of the eyes. The defective is a measurement principally of rod function, as it is an vision is due to the blurring of the retinal images, index of the mass electrical response of the retina, and which occurs as a result of the constant oscillatory the rods far outnumber the cones in that tissue. The movements of the eyes. function of the cones alone may, however, be assessed by measuring the rate of ERG fusion using a flickering light (b) Pendular nystagmus. In contrast to the stimulus. The fusion rate of the cones is high (greater former condition which is a fairly well-delineated than 30 cycles per second), but that of the rods is low clinical entity, pendular nystagmus occurs in early (less than 10 cycles per second). A low ERG fusion childhood as a symptom of many hereditary dis- frequency therefore indicates a defect in function of the on September 27, 2021 by guest. Protected orders of the eyes and of the visual pathways, and retinal cones. also in some cases in the absence of any demon- strable ocular pathology. Whether there is obvious Leber's Congenital Amaurosis (Retinal clinical evidence of ocular disease or not, the charac- Aplasia) ter of the nystagmus tends to be the same; pendular In this condition there is a gross defect in the horizontal oscillations are present on forwards, up- function of the retinal elements from birth or early wards, and downwards gaze, but in positions of infancy, though the eyes may appear completely lateral gaze the nystagmus tends to become jerky, normal in early childhood.
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