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.