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Klin Monbl Augenheilkd 2014; 231(3): 222-231
DOI: 10.1055/s-0033-1360259
Übersicht
Georg Thieme Verlag KG Stuttgart · New York

Therapieansätze für erbliche Netzhauterkrankungen: von den Genen bis zum Chip

Current Therapeutic Approaches in Inherited Retinal Degeneration: From Genes to Chip
B. Arango-Gonzalez
Forschungsinstitut für Augenheilkunde und Universitäts-Augenklinik, Universitätsklinikum Tübingen
,
M. A. Leitritz
Forschungsinstitut für Augenheilkunde und Universitäts-Augenklinik, Universitätsklinikum Tübingen
,
D. Fischer
Forschungsinstitut für Augenheilkunde und Universitäts-Augenklinik, Universitätsklinikum Tübingen
,
M. Gerberding
Forschungsinstitut für Augenheilkunde und Universitäts-Augenklinik, Universitätsklinikum Tübingen
,
F. Paquet-Durand
Forschungsinstitut für Augenheilkunde und Universitäts-Augenklinik, Universitätsklinikum Tübingen
,
M. Ueffing
Forschungsinstitut für Augenheilkunde und Universitäts-Augenklinik, Universitätsklinikum Tübingen
› Author Affiliations
Further Information

Publication History

eingereicht 28 November 2013

akzeptiert 03 December 2013

Publication Date:
21 March 2014 (online)

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Zusammenfassung

Derzeit werden verschiedene Strategien für die Behandlung erblich bedingter Photorezeptordegenerationen verfolgt. Die Mehrzahl dieser Ansätze sind in der Entwicklungsphase präklinischer oder klinischer Studien mit einem noch zu leistenden erheblichen Entwicklungsbedarf. Erbliche Netzhauterkrankungen sind genetisch und bezogen auf das Einsetzen klinischer Symptome und ihren Verlauf sehr heterogen. Dies macht den Schritt von der präklinischen Erprobung zur klinischen Studie schwierig und lässt überdies bei einigen früh einsetzenden Erkrankungen einen nur sehr begrenzten zeitlichen Rahmen für eine effektive Therapie. Die meisten bereits in der Entwicklung begriffenen gentherapeutischen Verfahren zielen auf die Rekonstitution physiologisch essenzieller Funktionen in retinalem Pigmentepithel und Photorezeptor. Die Neuroprotektion dagegen zielt auf den Zellerhalt von retinalen Zellen, die der Gefahr unterliegen, krankheitsbedingt zu degenerieren. Zellbasierte Ansätze wie z. B. die Zelltransplantation zielen auf den Ersatz verloren gegangener retinaler Zellen ab. Implantationsverfahren von elektronischen Prothesen und die Optogenetik zielen auf den künstlichen Ersatz verloren gegangener sensorischer Leistungen des Auges. Dieser Artikel soll einen Einblick in derzeit verfolgte therapeutische Strategien zur Behandlung erblicher Netzhauterkrankungen geben. Während pharmakologische Ansätze und supportive Nahrungsergänzungsmittel nur kurz besprochen werden, liegt der Schwerpunkt dieser Übersicht auf molekularen und prothetischen Ansätzen.

Abstract

Different strategies for the treatment of inherited photoreceptor degeneration are currently being investigated, with each of these approaches facing specific challenges. Gene therapy, for instance, may be feasible only for genetically well-defined pathologies. However, inherited retinal disorders are genetically highly heterogeneous and early onset disorders may restrict the therapeutic window. The majority of currently developed molecular approaches aim at the reconstitution of physiologically important functions in RPE and photoreceptor. Neuroprotection attempts to prolong cell survival and proper function via sustained delivery systems that fulfil a long-term dynamic reservoir function for therapeutic neuroprotective compounds. Cell-based approaches include replacement strategies such as cell transplantation, the implantation of prosthetic devices or optogenetics. They aim at replacing lost neurosensory functions of the retina. This short review aims at providing an insight into current therapeutic strategies and future treatment options for retinal disorders. Pharmacological and nutritional support strategies are only briefly discussed as we focus here on molecular and prosthetic therapeutic approaches.

Schlüsselwörter

erbliche Netzhautdegeneration - Retinitis pigmentosa (RP) - Neuroprotektion - translationale Medizin - Therapieentwicklung - Lebersche Kongenitale Amaurose (LCA)

Key words

hereditary retinal disorders - retinitis pigmentosa (RP) - neuroprotection - translational medicine - therapy development - Leberʼs congenital amaurosis (LCA)
 

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