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A molecular-genetic study of Congenital Nystagmus

Self, Jay (2009) A molecular-genetic study of Congenital Nystagmus University of Southampton, School of Medicine, Doctoral Thesis , 226pp.

Record type: Thesis (Doctoral)


Nystagmus is a disorder of eye movement characterised by irregular, uncontrolled and repetitive eye movements. It can occur in a broad spectrum of clinical situations and diseases or it may occur in isolation and an inherited disorder. Surprisingly little is known about the underlying mechanisms of ocular-motor control. Similarly, the pathophysiological mechanisms underpinning nystagmus is also poorly understood. By studying pedigrees in whom nystagmus seems to be inherited as an isolated trait (Congenital Idiopathic Nystagmus), it may be possible to identify some of the genetic causes of this disorder and subsequently understand the pathophysiology.
This thesis describes a molecular genetic study of congenital nystagmus. A clinical phenotyping study is followed by linkage analysis and positional cloning. A novel nystagmus gene is investigated in a large cohort of Congenital Idiopathic Nystagmus (CIN) patients and X-inactivation studies are performed. Subsequently, cell culture and RT-PCR work is performed to study expression of this gene. Additionally a pedigree with an atypical congenital nystagmus disorder is investigated and a new mutation within a known cerebellar disease gene is identified.
This work contributed to the identification of the first gene for Congenital Idiopathic Nystagmus (CIN). The first detailed temporal expression study of the FRMD7 nystagmus gene was also performed in this study which has directed further studies into the pathogenesis of CIN. Identification of a new mutation in the CACNA1A gene in a pedigree with nystagmus and subtle cerebellar signs has lead to the consideration of this gene in patients who present to hospital with isolated atypical nystagmus.

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Published date: March 2009
Organisations: University of Southampton


Local EPrints ID: 67625
PURE UUID: fb925e61-359e-4d0c-90b1-2da2180e3d3a
ORCID for Jay Self: ORCID iD

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Date deposited: 28 Aug 2009
Last modified: 19 Jul 2017 00:18

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Author: Jay Self ORCID iD
Thesis advisor: Andrew Lotery
Thesis advisor: P. Hodgkins
Thesis advisor: A. Collins

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