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Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene

Authors :
Elise Héon
Ajoy Vincent
Source :
Eye. 26:1278-1280
Publication Year :
2012
Publisher :
Springer Science and Business Media LLC, 2012.

Abstract

X-linked congenital stationary night blindness (CSNB) is associated with mutations in nyctalopin1 (NYX;CSNB1A) or in the α1 subunit of L-type voltage-gated Ca2+ channel2 (CACNA1F;CSNB2A). We report for the first time, optical coherence tomography (OCT) features consistent with abnormal synapses in the outer nuclear layer (ONL) in a molecularly confirmed case of CSNB2A.

Details

ISSN :
14765454 and 0950222X
Volume :
26
Database :
OpenAIRE
Journal :
Eye
Accession number :
edsair.doi.dedup.....32a5714a459e58d1ddb733c07e4c701f