Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.

T yielding a substitution p.Ala256Val, and a mutation in the splice site before exon 2, c.119-2 A-->C.
Conclusions: The p.Ala256Val mutation affects the ligand binding domain of the NR2E3 nuclear receptor only, resulting in modestly impaired ESCS ERG results. -->
Grant Information: P30 EY014801 United States EY NEI NIH HHS; P30-EY014801 United States EY NEI NIH HHS
Substance Nomenclature: 0 (NR2E3 protein, human)
0 (Orphan Nuclear Receptors)
0 (Receptors, Cytoplasmic and Nuclear)
0 (Rod Opsins)
0 (Transcription Factors)
0 (short-wavelength opsin)
Entry Date(s): Date Created: 20070703 Date Completed: 20070717 Latest Revision: 20220408
Update Code: 20240829
DOI: 10.1016/j.ajo.2007.03.012
PMID: 17601449
Autor: Lam BL; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida 33136, USA. blam@med.miami.edu, Goldberg JL, Hartley KL, Stone EM, Liu M
Jazyk: angličtina
Zdroj: American journal of ophthalmology [Am J Ophthalmol] 2007 Jul; Vol. 144 (1), pp. 157-9.
DOI: 10.1016/j.ajo.2007.03.012
Abstrakt: Purpose: To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene.
Design: Observational case report.
Methods: Clinical examination, optical coherence tomography (OCT), electroretinography (ERG), genetic analysis, and protein homology modeling.
Results: Examination of a 9-year-old girl with acute visual loss of the left eye showed visual acuity of 20/30 in the right eye and 20/200 in the left eye; OCT revealed a choroidal neovascular membrane (CNVM) in the left fovea and cystic maculopathy in the right eye. Full-field ERG showed supranormal s-cone responses, reduced rod response, and characteristic ESCS waveform in photopic cone response but not in scotopic bright-flash response. Sequence analysis revealed heterozygous mutations in the NR2E3 gene, c.767C-->T yielding a substitution p.Ala256Val, and a mutation in the splice site before exon 2, c.119-2 A-->C.
Conclusions: The p.Ala256Val mutation affects the ligand binding domain of the NR2E3 nuclear receptor only, resulting in modestly impaired ESCS ERG results.
Databáze: MEDLINE
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