title: Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.
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.
authors.affiliation: Department of Ophthalmology, University Hospitals of Leuven, Leuven, Belgium. cathycassiman@hotmail.com
authors.forename: Catherine
authors.initials: C
authors.lastname: Cassiman
authors.forename: Werner
authors.initials: W
authors.lastname: Spileers
authors.forename: Elfride
authors.initials: E
authors.lastname: De Baere
authors.forename: Thomy
authors.initials: T
authors.lastname: de Ravel
authors.forename: Ingele
authors.initials: I
authors.lastname: Casteels
mesh_terms: D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005654:Fundus Oculi; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D057093:Orphan Nuclear Receptors / Q000235:genetics*; D010641:Phenotype; D012160:Retina / Q000002:abnormalities* / Q000503:physiopathology; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: D018389:Codon, Nonsense; C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors