无黄斑夹层的X型视网膜新近地天体（OCT）：“倒置顶中央凹”

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia Pub Date : 2025-08-01 DOI:10.1016/j.oftal.2025.02.001

P.B. Blasco Palacio, A. Aramburu-Gonzalez, I. Rodríguez García

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引用次数: 0

摘要

我们提出的情况下，52岁的男子稳定的眼科随访了过去的10年。临床无症状，双眼有飞蚊症。眼底观察到双侧外周视网膜裂，无黄斑裂。视网膜电图（ERG）呈电负性，遗传上证实了致病性变异c.461A >；G；与少年x连锁视网膜裂（RSLX）诊断相容的RS1基因p.（Gln154Arg）。光学相干断层扫描（OCT）的中央凹结构表现为先前未描述的“倒置屋顶中央凹”，在文献中发现了两个类似的病例。在男性患者中，如果我们发现“顶凹内翻”的迹象，我们应该检查眼底，如果我们发现周围性视网膜裂，我们建议坚持家族史，并通过ERG和分子遗传分析增加对其的研究，排除RSLX。

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Nuevo signo OCT en retinosquisis ligada al X sin esquisis macular: «fovea en tejado invertido»

We present the case of a 52-year-old man with a stable ophthalmological follow-up for the last 10 years. Clinically asymptomatic, except for floaters in both eyes. In the fundus, bilateral peripheral retinoschisis was observed without associated macular schisis. The electroretinogram (ERG) is electronegative and shows a genetic confirmation of the pathogenic variant c.461A >G; p.(Gln154Arg) of the RS1 gene compatible with the diagnosis of juvenile X-linked retinoschisis (RSLX). The foveal architecture in Optical Coherence Tomography (OCT) presents «inverted roof fovea» not previously described, having found two similar cases in the literature. In males in whom we find the sign of «inverted roof fovea», we should check the fundus, and if we find peripheral retinoschisis, we recommend insisting on the family history, and increase its study with an ERG and molecular genetic analysis, ruling out RSLX.

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来源期刊

Archivos De La Sociedad Espanola De Oftalmologia Medicine-Ophthalmology

CiteScore

1.20

自引率

0.00%

发文量

109

审稿时长

78 days

期刊介绍： La revista Archivos de la Sociedad Española de Oftalmología, editada mensualmente por la propia Sociedad, tiene como objetivo publicar trabajos de investigación básica y clínica como artículos originales; casos clínicos, innovaciones técnicas y correlaciones clinicopatológicas en forma de comunicaciones cortas; editoriales; revisiones; cartas al editor; comentarios de libros; información de eventos; noticias personales y anuncios comerciales, así como trabajos de temas históricos y motivos inconográficos relacionados con la Oftalmología. El título abreviado es Arch Soc Esp Oftalmol, y debe ser utilizado en bibliografías, notas a pie de página y referencias bibliográficas.