Identification and characterization of rod-derived cone viability factor

Nature Genetics
Thierry LéveillardJosé-Alain Sahel

Abstract

Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are essential for day and high-acuity vision. Their loss is indirect, as most genes associated with retinitis pigmentosa are not expressed by these cells. We previously showed that factors secreted from rods are essential for cone viability. Here we identified one such trophic factor by expression cloning and named it rod-derived cone viability factor (RdCVF). RdCVF is a truncated thioredoxin-like protein specifically expressed by photoreceptors. The identification of this protein offers new treatment possibilities for retinitis pigmentosa.

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Citations

Jul 2, 2005·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·R FriggC E Remé
Apr 12, 2013·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·José-Alain SahelSaddek Mohand-Said
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