Midperipheral retinal thickening on wide field OCT in a patient with a mutation in the NR2E3 gene

Abstract

To report typical retinal findings in a girl with the presumed diagnosis of ESCS, attributed to the presence of a homozygous likely pathogenic variation in the NR2E3 gene. A retrospective case report with multimodal imaging studies Wide field OCT examination at the age of 11 years showed increased thickening of the midperipheral retina. In the area of retinal thickening delineation of retinal architecture was coarse, and photoreceptor outer segments thinned and disrupted. The retinal pigment epithelium appeared to be normal on autofluorescence imaging. In retrospect the retinal thickening was already apparent on conventional OCT at the age of 3 years. Wide field OCT is a valuable new tool in assessing typical retinal abnormalities in patients with NR2E3 mutations, by showing an abnormal but very characteristic thickening of the midperipheral retina.