Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.

Angelo Maria MinnellaValeria PaglieiMaria Cristina SavastanoMatteo FedericiMatteo BertelliPaolo Enrico MalteseGiorgio PlacidiGiovanni CorboBenedetto FalsiniAldo Caporossi

Published in: Journal of medical case reports (2018)

Swept source structural optical coherence tomography (B scans and "en face" images) and optical coherence tomography angiography allowed the observation of retinal structural details and the involvement of each retinal layer and capillary plexus in enhanced S-cone syndrome. Of interest, neither of the two NR2E3 gene variants found in this case report have been linked to any form of retinopathy.

Keyphrases

optical coherence tomography
case report
diabetic retinopathy
copy number
optic nerve
computed tomography
magnetic resonance imaging
gene expression
transcription factor
deep learning