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Nat Genet. 2004 Jul;36(7):755-9. Epub 2004 Jun 27.

Identification and characterization of rod-derived cone viability factor.

Author information

1
Laboratoire de Physiopathologie Cellulaire et Moléculaire et de la Rétine, Inserm U592, Université Pierre et Marie Curie, Hôpital St-Antoine, 184 rue du Faubourg St-Antoine, 75571, Paris cedex 12, France.

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.

PMID:
15220920
DOI:
10.1038/ng1386
[Indexed for MEDLINE]
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