The retinal origin of congenital nystagmus

M.B. Holzel

The retinal origin of congenital nystagmus

M.B. Holzel

Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

Abstract

This thesis describes a revolutionary retinal mechanism leading to nystagmus in mouse models for CSNB. In patients with CSNB and nystagmus, mutations were found that are specifically present in the photoreceptor to ON-bipolar cell synapse, both pre- and postsynaptically. Here, we studied one presynaptic (Cav1.4) and two postsynaptic mutations (mGluR6nob3, Nyxnob) that cause CSNB.

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	University of Amsterdam
Supervisors/Advisors	Kamermans, Maarten, Supervisor Howlett, Marcus H. C., Co-supervisor, External person
Award date	1 May 2024
Print ISBNs	9789464698190
Publication status	Published - 1 May 2024

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https://hdl.handle.net/11245.1/cc290215-0048-4f42-b80d-f76b407fa304

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title = "The retinal origin of congenital nystagmus",

abstract = "This thesis describes a revolutionary retinal mechanism leading to nystagmus in mouse models for CSNB. In patients with CSNB and nystagmus, mutations were found that are specifically present in the photoreceptor to ON-bipolar cell synapse, both pre- and postsynaptically. Here, we studied one presynaptic (Cav1.4) and two postsynaptic mutations (mGluR6nob3, Nyxnob) that cause CSNB.",

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AB - This thesis describes a revolutionary retinal mechanism leading to nystagmus in mouse models for CSNB. In patients with CSNB and nystagmus, mutations were found that are specifically present in the photoreceptor to ON-bipolar cell synapse, both pre- and postsynaptically. Here, we studied one presynaptic (Cav1.4) and two postsynaptic mutations (mGluR6nob3, Nyxnob) that cause CSNB.

M3 - Phd-Thesis - Research and graduation internal

SN - 9789464698190

ER -

The retinal origin of congenital nystagmus

Abstract

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