斯特格眼病：两种遗传性视网膜病变的新型组合。

Stargardt's pigmentosa: A novel combination of two inherited retinal dystrophies.

机构信息

Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, Spain; Grupo de Investigación Miguel Servet Oftalmología, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain; Universidad de Zaragoza, Zaragoza, Spain.

出版信息

Arch Soc Esp Oftalmol (Engl Ed). 2023 Nov;98(11):665-669. doi: 10.1016/j.oftale.2023.09.003. Epub 2023 Sep 23.

DOI:10.1016/j.oftale.2023.09.003

PMID:37748682

Abstract

60-year-old woman referring visual disability. She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). Electroretinogram confirmed rod dysfunction. Biallelic mutations were found in ABCA4 and CNGA1 genes. Although not common, different IRDs may be present in a same patient at the same time. This is the first reported case of the combination of RP with late-onset Stargardt's disease. We propose the name 'Stargardt's pigmentosa' for this novel clinical entity.

摘要

一位 60 岁女性因视力障碍就诊。她表现出所有周边视网膜的骨状刺状色素沉着和视网膜萎缩，以及黄斑视网膜斑。多模态成像显示出两种遗传性视网膜营养不良（IRD）的典型表现。视网膜电图证实了杆功能障碍。在 ABCA4 和 CNGA1 基因中发现了双等位基因突变。尽管不常见，但同一位患者可能同时存在不同的 IRD。这是首例报道的 RP 与迟发性 Stargardt 病相结合的病例。我们为这种新的临床实体提出了“Stargardt 色素性视网膜炎”的名称。