Ontology highlight
ABSTRACT:
SUBMITTER: Mustafi D
PROVIDER: S-EPMC3157681 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Mustafi Debarshi D Kevany Brian M BM Genoud Christel C Okano Kiichiro K Cideciyan Artur V AV Sumaroka Alexander A Roman Alejandro J AJ Jacobson Samuel G SG Engel Andreas A Adams Mark D MD Palczewski Krzysztof K
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 20110609 9
Enhanced S-cone syndrome (ESCS), featuring an excess number of S cones, manifests as a progressive retinal degeneration that leads to blindness. Here, through optical imaging, we identified an abnormal interface between photoreceptors and the retinal pigment epithelium (RPE) in 9 patients with ESCS. The neural retina leucine zipper transcription factor-knockout (Nrl(-/-)) mouse model demonstrates many phenotypic features of human ESCS, including unstable S-cone-positive photoreceptors. Using mas ...[more]