Inherited optic neuropathies: From Genes to Clinical Manifestations

Cansu de Muijnck

doi:10.33540/3456

Inherited optic neuropathies: From Genes to Clinical Manifestations

Cansu de Muijnck

Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)

9 Downloads (Pure)

Abstract

Inherited optic neuropathies are a group of rare genetic diseases characterized by
vision loss in early life. Our knowledge about the underlying genetic mechanisms
and clinical features of these diseases are limited while this knowledge is
essential for reliable predictions of disease course, better genetic counseling,
and for developing therapeutic approaches in the future. The aim of this thesis
is to provide an overview of clinical and genetic features of different forms of
Inherited optic neuropathies. In addition, this thesis increases knowledge about
electrophysiological characteristics of inherited optic neuropathies.

Original language	English
Awarding Institution	University Medical Center (UMC) Utrecht
Supervisors/Advisors	van Genderen, Mies, Supervisor Boon, Camiel J.F., Supervisor
Award date	16 Jun 2026
Publisher	Utrecht University
Print ISBNs	978-94-6537-441-3
DOIs	https://doi.org/10.33540/3456
Publication status	Published - 16 Jun 2026

Keywords

inherited optic neuropathy
veps
wfs1
nsun3
optic atrophy

Access to Document

10.33540/3456

188310-cansu-de-muijnckprintversie - 6a281fb7ea467Final published version, 13.3 MB

Cite this

@phdthesis{224d362d51dc4d408d3ba9bfccb44b64,

title = "Inherited optic neuropathies: From Genes to Clinical Manifestations",

abstract = "Inherited optic neuropathies are a group of rare genetic diseases characterized by vision loss in early life. Our knowledge about the underlying genetic mechanisms and clinical features of these diseases are limited while this knowledge is essential for reliable predictions of disease course, better genetic counseling, and for developing therapeutic approaches in the future. The aim of this thesis is to provide an overview of clinical and genetic features of different forms of Inherited optic neuropathies. In addition, this thesis increases knowledge about electrophysiological characteristics of inherited optic neuropathies.",

keywords = "inherited optic neuropathy, veps, wfs1, nsun3, optic atrophy",

author = "\{de Muijnck\}, Cansu",

year = "2026",

month = jun,

day = "16",

doi = "10.33540/3456",

language = "English",

isbn = "978-94-6537-441-3",

publisher = "Utrecht University",

type = "Doctoral thesis 1 (Research UU / Graduation UU)",

school = "UMC Utrecht",

}

TY - THES

T1 - Inherited optic neuropathies: From Genes to Clinical Manifestations

AU - de Muijnck, Cansu

PY - 2026/6/16

Y1 - 2026/6/16

N2 - Inherited optic neuropathies are a group of rare genetic diseases characterized by vision loss in early life. Our knowledge about the underlying genetic mechanisms and clinical features of these diseases are limited while this knowledge is essential for reliable predictions of disease course, better genetic counseling, and for developing therapeutic approaches in the future. The aim of this thesis is to provide an overview of clinical and genetic features of different forms of Inherited optic neuropathies. In addition, this thesis increases knowledge about electrophysiological characteristics of inherited optic neuropathies.

AB - Inherited optic neuropathies are a group of rare genetic diseases characterized by vision loss in early life. Our knowledge about the underlying genetic mechanisms and clinical features of these diseases are limited while this knowledge is essential for reliable predictions of disease course, better genetic counseling, and for developing therapeutic approaches in the future. The aim of this thesis is to provide an overview of clinical and genetic features of different forms of Inherited optic neuropathies. In addition, this thesis increases knowledge about electrophysiological characteristics of inherited optic neuropathies.

KW - inherited optic neuropathy

KW - veps

KW - wfs1

KW - nsun3

KW - optic atrophy

U2 - 10.33540/3456

DO - 10.33540/3456

M3 - Doctoral thesis 1 (Research UU / Graduation UU)

SN - 978-94-6537-441-3

PB - Utrecht University

ER -

Inherited optic neuropathies: From Genes to Clinical Manifestations

Abstract

Keywords

Access to Document

Fingerprint

Cite this