Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene  

Oleh:

Lam, Byron L. ; Goldberg, Jeffrey L ; Hartley, Kristen L. ; Stone, Edwin M. ; Liu, Mu

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: American Journal of Ophthalmology (keterangan: ada di ClinicalKey) vol. 144 no. 01 (Jul. 2007), page 157.

Ketersediaan

Perpustakaan FK Nomor Panggil: A12.K.2007.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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