MIDPERIPHERAL RETINAL THICKENING ON WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH A MUTATION IN THE NR2E3 GENE.

PURPOSE: To report typical retinal findings in a girl with the presumed diagnosis of enhanced S-cone syndrome, attributed to the presence of a homozygous likely pathogenic variation in the NR2E3 gene.

METHODS

A retrospective case report with multimodal imaging studies.

RESULTS

Widefield OCT examination at the age of 11 showed increased thickening of the midperipheral retina. In the area of retinal thickening, the 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.

CONCLUSION

Widefield 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.