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

摘要: Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in nuclear receptor gene (NR2E3) that leads alteration cells development from rod S-cone. This may be associated with schisis. The aim of this report describe structural optical coherence tomography and angiography features case enhanced macular A Caucasian 13-year-old girl underwent measurement best corrected visual acuity, ophthalmoscopic evaluation, fundus autofluorescence examination. Photopic scotopic electroretinography were carried out as well. was suspected on the basis clinical electrophysiological findings. Structural allowed further characterization Genetic analysis not only confirmed diagnosis but increased novelty by showing two variations NR2E3 probably phenotype: missense variation c.1118T>C which substitution leucine proline amino acid position 373, c.349+5G>C, involves sequence near splicing site. Swept source (B scans “en face” images) observation details involvement each layer capillary plexus syndrome. Of interest, neither variants found have been linked any form retinopathy.