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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 (2018). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics, 39(1):92-94.

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 Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Neuroscience Center Zurich
04 Faculty of Medicine > Center for Integrative Human Physiology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Ophthalmology
Health Sciences > Genetics (clinical)
Language:English
Date:2018
Deposited On:31 Aug 2017 09:45
Last Modified:29 Jul 2020 06:34
Publisher:Informa Healthcare
ISSN:1381-6810
OA Status:Closed
Publisher DOI:https://doi.org/10.1080/13816810.2017.1350721
PubMed ID:28812413
Project Information:
  • : FunderSNSF
  • : Grant ID320030_138507
  • : Project TitleMolecular basis, genetic modifiers and treatment of human retinal diseases.

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