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

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

Research output: Contribution to journalArticle

19 Citations (Scopus)

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 languageEnglish
Pages (from-to)157-159
Number of pages3
JournalAmerican Journal of Ophthalmology
Volume144
Issue number1
DOIs
StatePublished - Jul 1 2007

Fingerprint

Electroretinography
Mutation
Optical Coherence Tomography
Genes
Cytoplasmic and Nuclear Receptors
Visual Acuity
Sequence Analysis
Exons
Ligands
Membranes
Enhanced S-Cone Syndrome
Proteins

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 journalArticle

Lam, Byron L ; Goldberg, Jeffrey L. ; Hartley, Kristen L. ; Stone, Edwin M. ; Liu, Mu. / Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene. In: American Journal of Ophthalmology. 2007 ; Vol. 144, No. 1. pp. 157-159.
@article{ac0b15444c994001ba16ee41f0046288,
title = "Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene",
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.",
author = "Lam, {Byron L} and Goldberg, {Jeffrey L.} and Hartley, {Kristen L.} and Stone, {Edwin M.} and Mu Liu",
year = "2007",
month = "7",
day = "1",
doi = "10.1016/j.ajo.2007.03.012",
language = "English",
volume = "144",
pages = "157--159",
journal = "American Journal of Ophthalmology",
issn = "0002-9394",
publisher = "Elsevier USA",
number = "1",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=34250762012&partnerID=8YFLogxK

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 -