Infantile nystagmus: current concepts in diagnosis and management

Abstract

This review examines current approaches to the diagnosis and management of congenital forms of nystagmus. Emphasis is placed on diagnostic features that are amenable to clinical identification but those issues that can be addressed only with more detailed investigations, such as eye movement recording, are indicated. Non-surgical management, including prism spectacles, contact lenses and vision therapy, is discussed, as are surgical approaches. Because many aspects of congenital forms of nystagmus, particularly as experienced by patients with the condition in their normal lives, are poorly addressed in both the clinical and research literature, these limitations are also highlighted. INVITED REVIEWInfantile nystagmus: current concepts in diagnosis and managementNystagmus, diagnosis and management Abel

Abnormal Head Position in Infantile Nystagmus Syndrome

“…Anomalous head position is more often horizontal, but it may also be vertical or take the form of a tilt even though the nystagmus itself is horizontal [8]. In Spielmann's study, horizontal torticollis was present in 12 patients (26%), alternating head turn in 6 (13%), a blocking convergence in 5 (10%), a vertical abnormal posture in 7 (15%), a pure head tilt in one case, and a mixed head position in 13 patients (2%) [7].…”

“…The most common is the discordant head turn: each eye fixates in adduction [7]. Best visual acuity should be also tested in the null position, because if it is only assessed in primary position, visual acuity could be underestimated [8]. Spielmann also advocates testing not only visual acuity at near, but the distance at which blocking convergence occurs.…”

“…Each of the components can be measured using an orthopedic goniometer or a sensitive torticollometer placed on the patient's head [10]. It is very useful to evaluate the family photo album [8]. The nystagmus amplitude may be so small as to be detectable only with the aid of a slit lamp.…”

Visual rehabilitation of patients with oculocutaneous albinism Type I (OCA1): Results in 85 patents

“…Nystagmus associated with OCA has been classified in many ways, resulting in some confusion and disagreement among clinicians and scientists [8]. The National Eye Institute sponsored workshop, Classification of Eye Movement Abnormalities and Strabismus (CEMAS), has attempted to resolve some of the confusion with a publication that defines the various types of nystagmus associated with OCA [9].…”

“…The published definition of INS by the CEMAS working group is used in this study [9]. The major clinical characteristics of INS with variable association include: increased intensity with fixation, decreased intensity with sleep, variable intensity due to eye position in orbit or gaze (eccentric null position), changing direction in different positions of gaze (neutral positions), decreased intensity with convergence (damping), changing direction and/or intensity with monocular occlusion ("latent component"), anomalous head posturing, strabismus and dissociated horizontal and vertical deviations [8][9][10]. In addition to the above characteristics, up to 33% of patients with OCA1 and INS will have an inherent, rhythmic, periodic or (a)periodically changing nystagmus intensity and/or direction over time [11][12][13][14].…”