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