Abstract
Purpose: CEMAS group has classified nystagmus comprehensively in 2001. From that time, attempts to make the subject as uniform as possible, needed continuous upgrading. This manuscript is an upgraded clinical approach for diagnosis of Irreversible Congenital Nystagmus, which is in addition to its being one of the major clinical features of intrinsic ocular diseases, is also a sign of inborn errors of myelination. Design: We will accompany the way to the diagnosis of congenital irreversible nystagmus of non-intrinsic eye disease origin, by highlighting all the symptoms and signs, which lead us to ascertain the exact etiologies, despite the important past classifications of nystagmus. Methods: We reviewed the appropriate relevant medical literature and looked for all the diseases, syndromes and triads in which the congenital nystagmus is one of their main components. We brought here in addition, a case report of an infant suffering from nystagmus for further refreshment. Results: In addition to its being a feature of several pediatric ophthalmic syndromes, congenital irreversible nystagmus (ICN) is also one of the exclusively important features in several nonophthalmic diseases, but not necessarily the first to appear. It is a main component for the diagnosis of Multiple Sclerosis, as well as other Leukodystrophies diagnosis, and to a lesser frequency in other syndromes. Conclusions: We recommend for Ophthalmologists to use the policy of “wait and see”, in infants complaining of irreversible nystagmus, which is not caused by local ophthalmic diseases. The appearance of characteristics, such as deafness, axial hypotonia, tremor and staccato speech and so on, in parallel with hyperreflexia, is the core of our upgraded flow chart of nystagmus clinical approach.
Highlights
Noticeable ‘Congenital nystagmus’, or ‘infantile irreversible congenital nystagmus’ (ICN), continues to be a broad and incompletely defined subject at all its supposed aspects [1]
We reviewed the appropriate relevant medical literature and looked for all the diseases, syndromes and triads in which the congenital nystagmus is one of their main components
In addition to its being a feature of several pediatric ophthalmic syndromes, congenital irreversible nystagmus (ICN) is one of the exclusively important features in several nonophthalmic diseases, but not necessarily the first to appear
Summary
Noticeable ‘Congenital nystagmus’, or ‘infantile irreversible congenital nystagmus’ (ICN), continues to be a broad and incompletely defined subject at all its supposed aspects [1]. The reason, apparently, is that previous proposed classifications for nystagmus diagnosis so far, are not enough to cover the whole of the existing etiologies. The National Eye Institute’s Classification of Eye Movement Abnormalities and Strabismus (CEMAS) was published in 2001, based on diagnosing nystagmus according to eye movements’ recordings. This classification came after a long period of absence of unifying paradigm and lack of cross-disciplinary agreements about the definitions and about the variety of disorders, which might abbreviate the way to diagnose the etiology of nystagmus [1]. Jayalakshmi et al in a prospective study of fifty-two patients with infantile nystagmus published 1970; made the interesting observation that congenital nystagmus disappeared in approximately half the patients by five years of age, without mention of its cause [4]
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