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中心性浆液性脉络膜视网膜病变的遗传背景:关于中心性浆液性脉络膜视网膜病变相关基因的综述

The Genetic Background of Central Serous Chorioretinopathy: A Review on Central Serous Chorioretinopathy Genes.

作者信息

Giannopoulos Konstantinos, Gazouli Maria, Chatzistefanou Klio, Bakouli Anthi, Moschos Marilita M

机构信息

First Department of Ophthalmology, Gennimatas General Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.

Department of Ophthalmology, General Hospital of Sitia, Sitia, Greece.

出版信息

J Genomics. 2021 Jan 1;9:10-19. doi: 10.7150/jgen.55545. eCollection 2021.

Abstract

Central serous chorioretinopathy is characterized by neurosensory detachment of the central retina secondary to fluid leakage through the retinal pigment epithelium. Though it has an incidence of 9,9 per 100.000 in men and 1,7 per 100.000 in women, it is the fourth most common retinal disorder. Central serous chorioretinopathy patients present with blurred vision, central scotoma, metamorphopsia, micropsia and mild color discrimination. It is usually a self-limited disorder with nearly none or minimal visual impairment but in some patients the disease persists and may cause severe visual impairment. Central serous chorioretinopathy pathophysiology is not well understood. Choroid, retinal pigment epithelium and hormonal pathways seem to play important roles in central serous chorioretinopathy pathophysiology. Also, familial cases of the disease indicate that there is a genetic background. The identification of certain disease genes could lead to the development of better diagnostic and therapeutic approaches for central serous chorioretinopathy patients.

摘要

中心性浆液性脉络膜视网膜病变的特征是继发于通过视网膜色素上皮的液体渗漏的中心视网膜神经感觉脱离。虽然男性发病率为每10万人中有9.9例,女性为每10万人中有1.7例,但它是第四常见的视网膜疾病。中心性浆液性脉络膜视网膜病变患者表现为视力模糊、中心暗点、视物变形、视物显小症和轻度色觉异常。它通常是一种自限性疾病,几乎没有或仅有轻微视力损害,但在一些患者中,疾病会持续存在并可能导致严重视力损害。中心性浆液性脉络膜视网膜病变的病理生理学尚未完全了解。脉络膜、视网膜色素上皮和激素途径似乎在中心性浆液性脉络膜视网膜病变的病理生理学中起重要作用。此外,该疾病的家族病例表明存在遗传背景。某些疾病基因的鉴定可能会为中心性浆液性脉络膜视网膜病变患者开发出更好的诊断和治疗方法。

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