A Novel Autosomal Recessive Variant of the <i>NRL</i> Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

A Novel Autosomal Recessive Variant of the <i>NRL</i> Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the <i>NR2E3</i> gene. Only a few pathogenic variations in the <i>NRL</i> gene associated with ESCS have been reported to date. Here, we describe...

Full description

Bibliographic Details
Main Authors: Giancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe’, Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, Andrea Bartuli, Luca Buzzonetti
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Diagnostics
Subjects:
enhanced S-cone syndrome
autosomal recessive inheritance
<i>NRL</i>
retinal degeneration
phenotype variability
specialized ERG response
Online Access:https://www.mdpi.com/2075-4418/12/9/2183

Internet

https://www.mdpi.com/2075-4418/12/9/2183

Similar Items