Die frühzeitige Diagnose einer erblichen Netzhauterkrankung ist für die betroffenen
Patienten und ihre Angehörigen von hoher Relevanz, damit sich Konsequenzen für die
Berufs-, Lebens- und Familienplanung erfassen und der Umgang damit planen lassen.
Im 1. Teil wurde das diagnostische Vorgehen dargestellt, das nach der klinischen Diagnose
einer erblichen Netzhauterkrankung mit den ersten therapeutischen Schritten Hand in
Hand gehen sollte [1]. Dieser 2. Teil stellt die Anforderungen an die Beratung, die verfügbaren Behandlungsmöglichkeiten
sowie zukünftige Therapieverfahren dar.
Abstract
Inherited retinal diseases (IRDs) represent a heterogeneous group of genetically driven
conditions that frequently lead to progressive vision loss. Due to their complexity
and the limited therapeutic options available, they pose a significant challenge for
ophthalmology. This article provides a comprehensive overview of current evidence-based
therapeutic approaches, including pharmacological strategies, gene therapy, and stem
cell therapy, as well as innovative developments such as optogenetics and retinal
implants. While gene therapies like Luxturna for RPE65-associated retinitis pigmentosa have paved the way for causal treatments, initial
successes are also being observed in other retinal dystrophies, such as Stargardt
disease and Usher syndrome. Rehabilitative measures and interdisciplinary care remain
essential to improving the quality of life for affected individuals. Future research
efforts focus on enhancing the efficacy and accessibility of
therapies while addressing challenges such as inflammatory reactions, high costs,
and genetic variability. The perspectives outlined highlight promising advancements
in the treatment of genetic retinal diseases.
Schlüsselwörter
Netzhautdystrophie - seltene Netzhauterkrankung - erbliche Optikusatrophie - Genetik
Keywords
inherited retinal dystrophies - optic atrophies - retinal imaging - retinal function
- molecular genetic testing
