具有NR2E3基因新型复合杂合性的非典型轻度增强型S锥体综合征。

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

作者信息

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

机构信息

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.

出版信息

Am J Ophthalmol. 2007 Jul;144(1):157-9. doi: 10.1016/j.ajo.2007.03.012.

DOI:10.1016/j.ajo.2007.03.012

PMID:17601449

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.

摘要

目的

报告与NR2E3基因新的杂合突变相关的轻度增强型视锥细胞综合征（ESCS）。

设计

观察性病例报告。

方法

临床检查、光学相干断层扫描（OCT）、视网膜电图（ERG）、基因分析和蛋白质同源性建模。

结果

对一名9岁左眼急性视力丧失的女孩进行检查，结果显示右眼视力为20/30，左眼视力为20/200；OCT显示左眼黄斑中心凹有脉络膜新生血管膜（CNVM），右眼有黄斑囊样病变。全视野ERG显示超常的视锥细胞反应、降低的视杆细胞反应，以及明视视锥细胞反应中具有特征性的ESCS波形，但在暗视闪光反应中未出现。序列分析显示NR2E3基因存在杂合突变，c.767C→T导致p.Ala256Val替换，以及外显子2之前剪接位点的突变，c.119-2A→C。