gms | German Medical Science

26. Jahrestagung der Deutschen Retinologischen Gesellschaft

Deutsche Gesellschaft für Retinologie

27.09.2013, Hamburg

Retinal dystrophies – fundamental aspects of gene therapy

Meeting Abstract

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  • Bart P. Leroy - Dept of Ophthalmology & Ctr for Medical Genetics, Ghent University Hospital & Ghent University, Gent, Belgium

Retinologische Gesellschaft. 26. Jahrestagung der Retinologischen Gesellschaft. Hamburg, 27.-27.09.2013. Düsseldorf: German Medical Science GMS Publishing House; 2013. Doc13rg11

doi: 10.3205/13rg11, urn:nbn:de:0183-13rg111

Veröffentlicht: 20. August 2013

© 2013 Leroy.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen ( Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.



Purpose: The talk will focus on an overview of gene therapy trials for inherited retinal disease, which are currently ongoing or have been finalized. In addition, successful trials in animal models will be mentioned.

Methods: Systematic review.

Results: Currently there are 6 trials around the World focusing on gene therapy for RPE65-related Leber congenital amaurosis, with good safety outcomes and considerable success in restoring some visual function. In addition, gene therapy trials are ongoing for Stargardt macular dystrophy (ABCA4), Usher type 1B (MYO7A), MERTK related early-onset retinal dystrophy and choroideraemia (CHM1).

So far, no safety issues have been encountered in these latter trials, whereas it is too early to evaluate restoration and/or stabilization of function.

Success in animal models has been obtained for X-linked retinoschisis, as well as models of CNGA3- and CNGB3-related achromatopsia.

Conclusions: Gene therapy trials for inherited retinal dystrophies are safe and somewhat successful in restoring and/or stabilizing retinal function.