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

Ophthalmic Genetics

Volumn 34, Issue 1-2, 2013, Pages 105-108

  Cassiman, Catherine ^a   Spileers, Werner ^a   De Baere, Elfride ^b   De Ravel, Thomy ^a   Casteels, Ingele ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b GHENT UNIVERSITY   (Belgium)

Author keywords

Enhanced S cone syndrome; Night blindness; NR2E3

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DNA DETERMINATION; ELECTRORETINOGRAPHY; ENHANCED S CONE SYNDROME; GENE; HUMAN; MALE; NIGHT BLINDNESS; NONSENSE MUTATION; NR2E3 GENE; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION;

CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; EYE DISEASES, HEREDITARY; FUNDUS OCULI; HOMOZYGOTE; HUMANS; INFANT; MALE; NIGHT BLINDNESS; ORPHAN NUCLEAR RECEPTORS; PHENOTYPE; RETINA; RETINAL DEGENERATION; VISION DISORDERS;

EID: 84876022630     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.726395     Document Type: Article

References (7)

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