Optikopathien umfassen eine Gruppe von Erkrankungen mit unterschiedlicher Ätiologie. Dabei ist es wichtig, zwischen genetischen und erworbenen Ursachen zu unterscheiden. Die primäre Ursache und Konsequenz oder Koinzidenz bei gleichzeitig bestehenden retinalen Veränderungen und Optikopathien sind aufgrund der engen anatomischen und funktionellen Beziehung zwischen Sehnerv und Netzhaut oft nicht eindeutig zu differenzieren.
Abstract
Due to the close anatomical, functional and trophic relationships between the optic nerve and retina, a wide variety of diseases affecting both structures have reciprocal effects on each other, which must be considered in the differential diagnosis to avoid misdiagnosis. Therefore, it is essential to assess pathological changes in both structures in context to differentiate the type and location of the primary lesion from its consequences, as well as to correctly classify coincidences and disease-specific lesion patterns in both organ components.
This article highlights the typical symptom constellations and lesion patterns of optic neuropathies and retinopathies. An attempt is made to identify the reciprocal characteristic relationships of the respective lesions in both structures in various disease groups, as well as to present their respective roles in the differential diagnosis.
In the first part of the article, typical optic neuropathies in the context of various syndromic and non-syndromic retinal dystrophies are initially examined. Subsequently, the relationships between different hereditary and acquired mitochondriopathic optic neuropathies and possible accompanying retinal changes are analysed, and their pathogenesis and relevant differential diagnoses are discussed.
It is demonstrated and exemplified how important it is in general, but also specifically in regard to the disease groups discussed in this article, to have a careful and targeted diagnostic approach in each case, considering both the retinal and optic nerve findings, in order to avoid misdiagnosis.
Schlüsselwörter
Optikusneuropathie - Mitochondriopathie - Netzhautdystrophie - LHON - toxische Optikopathie
Keywords
optic neuropathy - mitochondriopathy - LHON - retinal dystrophy - toxic optic neuropathy
