Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

Ophthalmic Genet. Mar-Jun 2013;34(1-2):105-8. doi: 10.3109/13816810.2012.726395. Epub 2012 Oct 5.

Abstract

Enhanced S-cone syndrome is a rare, slowly progressive autosomal recessively inherited retinal degeneration related to mutations in the NR2E3 gene. Patients often present with night blindness, visual loss and visual field abnormalities. Patients with enhanced S-cone syndrome exhibit a variable clinical phenotype associated with various degrees of pigmentary changes and foveal schisis. We report a 14-month-old boy with an unusual funduscopic appearance. The diagnosis of enhanced S-cone syndrome was suggested by the uniquely abnormal electroretinographic pattern and was confirmed by the finding of homozygous NR2E3 mutations.

Publication types

  • Case Reports

MeSH terms

  • Codon, Nonsense*
  • Consanguinity
  • DNA Mutational Analysis
  • Electroretinography
  • Exons / genetics
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / physiopathology
  • Fundus Oculi
  • Homozygote
  • Humans
  • Infant
  • Male
  • Night Blindness / diagnosis
  • Night Blindness / genetics*
  • Night Blindness / physiopathology
  • Orphan Nuclear Receptors / genetics*
  • Phenotype
  • Retina / abnormalities*
  • Retina / physiopathology
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / physiopathology
  • Vision Disorders / diagnosis
  • Vision Disorders / genetics*
  • Vision Disorders / physiopathology

Substances

  • Codon, Nonsense
  • NR2E3 protein, human
  • Orphan Nuclear Receptors

Supplementary concepts

  • Enhanced S-Cone Syndrome