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埃德加·德加是否患有斯特格病?

Did Edgar Degas have Stargardt disease?

机构信息

Departments of Ophthalmology & Pathology, University of Virginia, Charlottesville, Virginia, USA.

Department of Ophthalmology and Visual Sciences, Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.

出版信息

Ophthalmic Genet. 2021 Aug;42(4):402-404. doi: 10.1080/13816810.2021.1904418. Epub 2021 Mar 30.

Abstract

Renowned French painter Edgar Degas suffered of progressive light sensitivity and blurred central vision in both eyes, which affected his life and art in many ways. A first cousin from his mother's side, Estelle Musson of New Orleans also lost vision in a similar fashion at a comparable age. We postulated that Edgar and Estelle shared the same retinal pathology that possibly developed in a hereditary fashion, and we were interested whether any of their living family descendants might carry mutations to test the possibility that Edgar Degas may have had Stargardt disease.Edgar was never married and had no children, but Estelle had five children, four of whom from her marriage to Edgar's younger brother, and there are several descendants still living in New Orleans area. Genetic testing on five of Estelle's great grandchildren (Edgar's great grandnieces) were performed searching for mutations.We could not document any disease-causing variations in the gene in any of the descendants and therefore concluded that Edgar Degas most likely did not have Stargardt disease. Estelle and Edgar may have shared a different hereditary disease or have had two different retinal dystrophies or had another eye disease, including the unlikely possibility of inflammatory disease.

摘要

法国著名画家埃德加·德加患有进行性光敏感和双眼中央视力模糊,这在很多方面影响了他的生活和艺术。他的母亲一方的一个表亲,来自新奥尔良的埃斯特尔·马森(Estelle Musson)也在类似的年龄以类似的方式失去了视力。我们推测埃德加和埃斯特尔患有相同的视网膜病变,这种病变可能以遗传性方式发展,我们想知道他们是否有任何在世的家族后代可能携带突变,以验证埃德加·德加可能患有斯特格病的可能性。埃德加从未结婚,也没有孩子,但埃斯特尔有五个孩子,其中四个是她与埃德加弟弟的婚姻所生,现在仍有几个后代居住在新奥尔良地区。对埃斯特尔的五个曾孙(埃德加的曾孙女)进行了基因检测,寻找 突变。我们无法在任何后代的 基因中记录到任何致病的变异,因此得出结论,埃德加·德加很可能没有患斯特格病。埃斯特尔和埃德加可能患有不同的遗传性疾病,或者患有两种不同的视网膜营养不良,或者患有其他眼部疾病,包括炎症性疾病的可能性极小。

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