Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 157-159 |
| Number of pages | 3 |
| Journal | American Journal of Ophthalmology |
| Volume | 144 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jul 1 2007 |
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ASJC Scopus subject areas
- Ophthalmology
Cite this
Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene. / Lam, Byron L; Goldberg, Jeffrey L.; Hartley, Kristen L.; Stone, Edwin M.; Liu, Mu.
In: American Journal of Ophthalmology, Vol. 144, No. 1, 01.07.2007, p. 157-159.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene
AU - Lam, Byron L
AU - Goldberg, Jeffrey L.
AU - Hartley, Kristen L.
AU - Stone, Edwin M.
AU - Liu, Mu
PY - 2007/7/1
Y1 - 2007/7/1
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=34250762012&partnerID=8YFLogxK
U2 - 10.1016/j.ajo.2007.03.012
DO - 10.1016/j.ajo.2007.03.012
M3 - Article
C2 - 17601449
AN - SCOPUS:34250762012
VL - 144
SP - 157
EP - 159
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
SN - 0002-9394
IS - 1
ER -