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Unusual retinopathy in a child with severe combined immune deficiency


Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

Abstract

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.

Abstract

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
04 Faculty of Medicine > Neuroscience Center Zurich
04 Faculty of Medicine > Center for Integrative Human Physiology
04 Faculty of Medicine > Institute of Medical Molecular Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:16 August 2017
Deposited On:31 Aug 2017 09:45
Last Modified:09 Dec 2017 02:07
Publisher:Informa Healthcare
ISSN:1381-6810
Publisher DOI:https://doi.org/10.1080/13816810.2017.1350721
PubMed ID:28812413

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