Unusual retinopathy in a child with severe combined immune deficiency

被引：1

作者：

Gerth-Kahlert, Christina ^{[1
]}

Tiwari, Amit ^{[2
]}

Hauri-Hohl, Mathias M. ^{[3
,4
]}

Hanson, James V. M. ^{[1
]}

Bahr, Angela ^{[2
]}

Palmowski-Wolfe, Anja ^{[5
]}

Gungor, Tayfun ^{[3
,4
]}

Berger, Wolfgang ^{[2
,6
,7
,8
]}

机构：

[1] Univ Hosp Zurich, Dept Ophthalmol, Frauen Klin Str 24, CH-8091 Zurich, Switzerland

[2] Univ Zurich, Inst Med Mol Genet, Schlieren, Switzerland

[3] Univ Childrens Hosp Zurich, Div Stem Cell Transplantat, Zurich, Switzerland

[4] Univ Childrens Hosp Zurich, Childrens Res Ctr, Zurich, Switzerland

[5] Univ Hosp Basel, Dept Ophthalmol, Basel, Switzerland

[6] Univ Zurich, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland

[7] Univ Zurich, Neurosci Ctr Zurich, Zurich, Switzerland

[8] Swiss Fed Inst Technol, Zurich, Switzerland

来源：

OPHTHALMIC GENETICS | 2018年 / 39卷 / 01期

基金：

瑞士国家科学基金会;

关键词：

SCID; retinopathy; LCA; enterovirus; whole exome sequencing (WES); ACUTE RETINAL NECROSIS; SIMPLEX-VIRUS TYPE-2; DISEASE;

D O I：

10.1080/13816810.2017.1350721

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of congenital retinitis pigmentosa/Leber's congenital amaurosis could be excluded by whole exome sequencing.

引用

页码：92 / 94

页数：3

共 13 条

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