Enhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler.
Sign Up to like & getrecommendations! Published in 2022 at "Ocular immunology and inflammation"
DOI: 10.1080/09273948.2022.2028290
Abstract: PURPOSE To report two cases masquerading as TORCH but eventually diagnosed with Enhanced S-cone Syndrome (ESCS). METHODS Descriptive case report. RESULTS Case 1: A ten-month-old boy presented with high hypermetropia, strabismus and bilateral chorioretinal pigmented… read more here.
Keywords: torch; cone syndrome; masquerading torch; enhanced cone ... See more keywords
En Face Optical Coherence Tomography Imaging in Enhanced S-Cone Syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Retina"
DOI: 10.1097/iae.0000000000002857
Abstract: Enhanced S-Cone syndrome (ESCS) is a retinal dystrophy secondary to an autosomal recessive inheritance on NR2E3 gene. We report the peculiar aspect of en face optical coherence tomography (OCT) in a case of ESCS. A… read more here.
Keywords: optical coherence; face; cone syndrome; enhanced cone ... See more keywords
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12092183
Abstract: Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the NR2E3 gene. Only a few pathogenic variations in the NRL gene associated with ESCS have been reported… read more here.
Keywords: autosomal recessive; cone; cone syndrome; enhanced cone ... See more keywords