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Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene
- 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.
- Subjects :
- Congenital stationary night blindness
genetic structures
medicine.diagnostic_test
Chemistry
Retinal
Anatomy
Molecular biology
eye diseases
Frameshift mutation
Ophthalmology
chemistry.chemical_compound
medicine.anatomical_structure
Optical coherence tomography
Correspondence
medicine
CACNA1F gene
sense organs
Anomaly (physics)
Outer nuclear layer
Electroretinography
Subjects
Details
- ISSN :
- 14765454 and 0950222X
- Volume :
- 26
- Database :
- OpenAIRE
- Journal :
- Eye
- Accession number :
- edsair.doi.dedup.....32a5714a459e58d1ddb733c07e4c701f