A new mutation in enhanced S-cone syndrome

Acta Ophthalmol. 2018 Jun;96(4):e539-e540. doi: 10.1111/aos.13205. Epub 2016 Aug 29.

Authors

Julia Termühlen¹, Anne F Alex¹, Nicola Glöckle², Ulrich Kellner³, Barbara Fiedler⁴, Nicole Eter¹, Constantin E Uhlig¹

Affiliations

¹ Department of Ophthalmology, University Medical Center, Muenster, Germany.
² CeGaT GmbH, Tuebingen, Germany.
³ Rare Retinal Disease Center, AugenZentrum Siegburg, Siegburg, Germany.
⁴ Department of Neuropediatrics, University Children's Hospital, Muenster, Germany.

PMID: 27573156
DOI: 10.1111/aos.13205

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Electroretinography
Eye Diseases, Hereditary / diagnosis
Eye Diseases, Hereditary / genetics*
Eye Diseases, Hereditary / physiopathology
Humans
Male
Mutation*
Orphan Nuclear Receptors / genetics*
Retina / physiopathology
Retinal Degeneration / diagnosis
Retinal Degeneration / genetics*
Retinal Degeneration / physiopathology
Vision Disorders / diagnosis
Vision Disorders / genetics*
Vision Disorders / physiopathology
Visual Acuity / physiology

Substances

NR2E3 protein, human
Orphan Nuclear Receptors

Supplementary concepts

Enhanced S-Cone Syndrome