Department of Ophthalmology, Columbia University, New York, New York2Rotterdam Eye Hospital, Rotterdam, the Netherlands.
JAMA Ophthalmol. 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349.
New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy.
To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene.
Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012.
Academic and private ophthalmology practices specialized in retinal dystrophies.
A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations.
Patients had ophthalmic examinations including visual function testing that led to the original diagnosis.
New fundus features captured with imaging modalities.
New clinical observations in ESCS include (1) torpedo-like, deep atrophic lesions with a small hyperpigmented rim, variably sized and predominantly located along the arcades; (2) circumferential fibrotic scars in the posterior pole with a spared center and large fibrotic scars around the optic nerve head; and (3) yellow dots in areas of relatively normal-appearing retina.
Enhanced S-cone syndrome has more pleiotropy than previously appreciated. While the nummular type of pigmentation at the level of the retinal pigment epithelium and cystoid or schisis-like maculopathy with typical functional findings remain classic hallmarks of the disease, changes such as circumferential fibrosis of the macula or peripapillary area and "torpedo-like" lesions along the vascular arcades may also direct the clinical diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis.
患有增强型 S 锥细胞综合征(ESCS)的患者的新眼底发现可能有助于临床医生诊断这种罕见的常染色体隐性视网膜营养不良。
扩大 NR2E3 基因突变引起的 ESCS 的临床谱。
1983 年至 2012 年间检查的 31 例患者的回顾性、非对照病例系列研究。
专门研究视网膜营养不良的学术和私人眼科诊所。
一组诊断为 ESCS 并携带已知 NR2E3 突变的患者。
患者接受眼科检查,包括导致最初诊断的视觉功能测试。
使用成像方式捕获的新眼底特征。
ESCS 的新临床观察结果包括:(1)鱼雷样、深萎缩病变,伴有小色素沉着缘,大小不一,主要沿血管弓分布;(2)后极部环形纤维瘢痕,中央保留,视神经头周围有大纤维瘢痕;(3)在相对正常的视网膜区域出现黄斑点。
增强型 S 锥细胞综合征比以前认为的具有更多的表型多样性。虽然视网膜色素上皮水平的结节状色素沉着和典型功能发现的囊样或裂孔样黄斑病变仍然是该疾病的经典标志,但黄斑或视盘周围区域的环形纤维化以及血管弓沿线的“鱼雷样”病变等变化也可能指导临床诊断,并集中筛选 NR2E3 基因进行分子诊断。