Zusammenfassung
Die genetisch und klinisch heterogene Netzhauterkrankung Retinitis Pigmentosa stellt
mit einer Prävalenz von 3,5 ‰ eine relativ häufige Ursache für Erblindung in den Industrienationen
dar. Seit Jahrzehnten wird an einer Vielzahl von Tiermodellen, die zum Teil dem Menschen
analoge Mutationen tragen, die Ätiologie dieser Krankheit studiert. Es steht jedoch
bis heute keine Therapie zur Verfügung, die den Verlauf dieser Erkrankung beeinflussen
und den apoptotischen Zelltod der Photorezeptoren aufhalten könnte. In letzter Zeit
haben sich vielversprechende neue Therapieansätze ergeben, die nun im Tiermodell erprobt
werden. Neben Versuchen, die degenerierten Photorezeptorzellen durch einen prä- oder
subretinal eingepflanzten Mikrochip zu ersetzen, scheinen sowohl die somatische Gentherapie
als auch die Hemmung des Photorezeptorzelltodes durch Apoptose mittels Wachstumsfaktoren
und anderen pharmakologischen Substanzen aussichtsreiche Ansätze für künftige Therapien
zu sein. Ein besseres Verständnis der molekularen Abläufe, die der Degeneration der
Photorezeptorzellen durch Apoptose zugrunde liegen, ist dabei jedoch eine unabdingbare
Voraussetzung.
Retinitis pigmentosa (RP) is a hereditary retinal dystrophy which leads to severe
visual impairment or blindness and affects about 3.5 ‰ of individuals in the industrial
world. During the past decades, numerous animal models carrying mutations analogous
to mutations in human RP have been studied to elucidate the molecular mechanisms leading
to apoptotic photoreceptor cell death in this disease. Up to date, there is no effective
treatment to influence the fatal outcome of RP. Recent progress in basic research
promotes the development of new therapeutic strategies. In order to restore visual
function in blind individuals, the development of electronic photoreceptor prosthesis
is being investigated by several researchgroups. Other promising approaches are somatic
gene therapy, the application of growth factors and/or pharmacological agents and
the inhibition of photoreceptor cell death by interfering with the apoptotic pathway.
However, a better understanding of the molecular events leading to cell loss due to
photoreceptor apoptosis will be essential for the development of effective treatment.
Schlüsselwörter
rd - Retinitis Pigmentosa - Netzhautdystrophie - Apoptose - c-fos
Key words
rd - retinitis pigmentosa - retinal dystrophy - apoptosis - c-fos
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