Title: Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations
Authors: Cassiman, Catherine ×
Spileers, Werner
De Baere, Elfride
de Ravel de l'Argentière, Thomy
Casteels, Ingele #
Issue Date: Mar-2013
Publisher: Aeolus Press
Series Title: Ophthalmic Genetics vol:34 issue:1-2 pages:105-108
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.
ISSN: 1381-6810
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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