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The Genetics of Nystagmus and Associated Inherited Diseases 

The Genetics of Nystagmus and Associated Inherited Diseases
The Genetics of Nystagmus and Associated Inherited Diseases

Shery Thomas

and Irene Gottlob

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date: 20 May 2022

Nystagmus can be a manifestation of various ocular and systemic disorders. However, it may represent a separate disease entity by itself, as in idiopathic infantile nystagmus. In this chapter we will attempt to classify nystagmus, paying particular attention to various infantile nystagmus forms. We will highlight the major features of associated malformation and inherited systemic diseases and will describe in detail the genetics of inherited idiopathic infantile nystagmus. Where appropriate we will insert the MIM number (Online Mendelian Inheritance in Man) of inherited disorders. The reader is referred to those entries for additional information.

Nystagmus consists of repetitive to-and-fro movements of the eye(s). The term “nystagmus” arises from the Greek word ‘νυσαγμόζ’(nystagmos), which is used to describe the head movements of a person in a drowsy state, typically a slow downward drift followed by a corrective quick upward movement. Nystagmus is described as pendular when it consists of sinusoidal slow-phase oscillations. If the slow phases are followed by corrective quick phases, then it is called jerk nystagmus.

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