早发性圆锥型营养不良伴CEP290 基因突变：病例报告。
An early onset cone dystrophy due to CEP290 mutation: a case report.
机构信息
Augencentrum Südwest, Seestrasse 59B, 70174, Stuttgart, Germany.
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
出版信息
Doc Ophthalmol. 2023 Dec;147(3):203-209. doi: 10.1007/s10633-023-09940-z. Epub 2023 Aug 29.
PURPOSE
Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of achromatopsia or slowly progressing cone dystrophy.
METHODS
We present 13 years of follow-up of a female patient who presented first with symptoms and findings typical for achromatopsia. The patient underwent functional and morphologic examinations, including fundus autofluorescence imaging, spectral-domain optical coherence tomography, electroretinography, color vision and visual field testing.
RESULTS
Diagnostic genetic testing via whole genome sequencing and virtual inherited retinal disease gene panel evaluation finally identified two compound heterozygous variants c.4452_4455del;p.(Lys1484Asnfs*4) and c.2414T > C;p.(Leu805Pro) in the CEP290 gene.
CONCLUSIONS
CEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy.
目的
CEP290 基因的双等位基因突变可导致早发性视网膜营养不良或综合征性疾病，如 Senior-Loken 或 Joubert 综合征。在此，我们介绍了一例由 CEP290 基因突变引起的非综合征性青少年型视网膜营养不良的不典型病例，该突变最初类似于色盲或进展缓慢的 Cone 营养不良的表型。
方法
我们对一名女性患者进行了 13 年的随访，该患者最初表现出典型的色盲症状和体征。患者接受了功能和形态学检查，包括眼底自发荧光成像、频域光学相干断层扫描、视网膜电图、色觉和视野测试。
结果
通过全基因组测序和虚拟遗传性视网膜疾病基因面板评估进行的诊断性基因检测最终确定 CEP290 基因中的两个复合杂合变体 c.4452_4455del;p.(Lys1484Asnfs*4) 和 c.2414T>C;p.(Leu805Pro)。
结论
CEP290 突变导致多种临床表型。所介绍的病例表现出类似于色盲或早发性进展缓慢的 Cone 营养不良的表型。
Zotero 插件