Infantile nystagmus
Infantile nystagmus
Nystagmus is a disorder of eye movement characterised by uncontrolled, to-and-fro movement. It is encountered regularly in ophthalmic practice and is associated with a wide range of ophthalmic, neurological and multisystem disorders or can be a normal finding (e.g. endpoint nystagmus). It is a clinical sign rather than a diagnosis and as such, the underlying pathological mechanisms are numerous. Therefore, genetic diagnosis is entirely dependent on clinical phenotyping. In this chapter, we illustrate this point with reference to recent literature and summarise our current workflow for genetic diagnosis to aid the non-specialist clinician.
Albinism, Genetics, Next-generation, Nystagmus, Phenotyping, Sequencing
403-406
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb
Sergouniotis, Panagiotis I.
21 January 2022
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb
Sergouniotis, Panagiotis I.
Self, James and Lee, Helena
(2022)
Infantile nystagmus.
In,
Black, Graeme C.M., Ashworth, Jane L. and Sergouniotis, Panagiotis I.
(eds.)
Clinical Ophthalmic Genetics and Genomics.
1 ed.
Academic Press, .
(doi:10.1016/B978-0-12-813944-8.00019-6).
Record type:
Book Section
Abstract
Nystagmus is a disorder of eye movement characterised by uncontrolled, to-and-fro movement. It is encountered regularly in ophthalmic practice and is associated with a wide range of ophthalmic, neurological and multisystem disorders or can be a normal finding (e.g. endpoint nystagmus). It is a clinical sign rather than a diagnosis and as such, the underlying pathological mechanisms are numerous. Therefore, genetic diagnosis is entirely dependent on clinical phenotyping. In this chapter, we illustrate this point with reference to recent literature and summarise our current workflow for genetic diagnosis to aid the non-specialist clinician.
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More information
Accepted/In Press date: 12 January 2022
e-pub ahead of print date: 21 January 2022
Published date: 21 January 2022
Keywords:
Albinism, Genetics, Next-generation, Nystagmus, Phenotyping, Sequencing
Identifiers
Local EPrints ID: 455222
URI: http://eprints.soton.ac.uk/id/eprint/455222
PURE UUID: 30b15d30-dc81-4371-9256-602e2ba58870
Catalogue record
Date deposited: 15 Mar 2022 17:44
Last modified: 17 Mar 2024 03:38
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Contributors
Editor:
Graeme C.M. Black
Editor:
Jane L. Ashworth
Editor:
Panagiotis I. Sergouniotis
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