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Novel therapeutics in nystagmus- what has the genetics taught us so far?

Novel therapeutics in nystagmus- what has the genetics taught us so far?
Novel therapeutics in nystagmus- what has the genetics taught us so far?
Nystagmus is a disorder characterised by uncontrolled, repetitive, to-and-fro movement of the eyes. It can occur as a seemingly isolated disorder but is most commonly the first, or most obvious, feature in a host of ophthalmic and systemic disorders. The number of underlying causes is vast and recent improvements in the provision of genetic testing have shown that many conditions can include nystagmus as a feature, but that phenotypes overlap significantly. Therefore, an increase in the understanding of the genetic causes of nystagmus has shown that successful novel therapeutics for ‘nystagmus’ can either target either specific underlying disorders and mechanisms (aiming to treat the underlying condition as a whole), or a final common pathway (aiming to treat the nystagmus directly).
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb

Self, James and Lee, Helena (2021) Novel therapeutics in nystagmus- what has the genetics taught us so far? Therapeutic Advances in Rare Disease (TAIRD). (doi:10.1177/2633004021998714).

Record type: Article

Abstract

Nystagmus is a disorder characterised by uncontrolled, repetitive, to-and-fro movement of the eyes. It can occur as a seemingly isolated disorder but is most commonly the first, or most obvious, feature in a host of ophthalmic and systemic disorders. The number of underlying causes is vast and recent improvements in the provision of genetic testing have shown that many conditions can include nystagmus as a feature, but that phenotypes overlap significantly. Therefore, an increase in the understanding of the genetic causes of nystagmus has shown that successful novel therapeutics for ‘nystagmus’ can either target either specific underlying disorders and mechanisms (aiming to treat the underlying condition as a whole), or a final common pathway (aiming to treat the nystagmus directly).

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Main document vs3 15-1-21 - Accepted Manuscript
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Accepted/In Press date: 8 February 2021
e-pub ahead of print date: 23 March 2021
Published date: 23 March 2021

Identifiers

Local EPrints ID: 447008
URI: http://eprints.soton.ac.uk/id/eprint/447008
PURE UUID: 0ca105c2-a716-4b51-ba00-79f4a034b797
ORCID for James Self: ORCID iD orcid.org/0000-0002-1030-9963
ORCID for Helena Lee: ORCID iD orcid.org/0000-0002-2573-9536

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Date deposited: 01 Mar 2021 17:34
Last modified: 30 Oct 2023 05:43

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