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

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

A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having <i>NR2E3</i> mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three p...

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Bibliographic Details
Main Authors: Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston, Susan M. Downes
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Genes
Subjects:
NR2E3
inherited retinal degeneration
retinal dystrophy
enhanced S-cone syndrome
autosomal recessive and autosomal dominant retinitis pigmentosa
Goldmann–Favre syndrome
Online Access:https://www.mdpi.com/2073-4425/11/11/1288

Internet

https://www.mdpi.com/2073-4425/11/11/1288

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