Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients.

ABSTRACT: A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having NR2E3 mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three participants were identified with biallelic NR2E3 pathogenic sequence variants detected using a targeted NGS gene panel, two of which were novel. Participant I was a Nepalese male aged 68 years, and participants II and III were white Caucasian females aged 69 and 10 years old, respectively. All three had childhood onset nyctalopia, a progressive decrease in central vision, and visual field loss. Patients I and III had photopsia, patient II had photosensitivity and patient III also had photophobia. Vis

SUBMITTER: Al-Khuzaei S 

PROVIDER: S-EPMC7716234 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature