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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.
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.
| 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 > Zurich Center for Integrative Human Physiology (ZIHP) |
| 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: | 17 Jan 2025 02:37 |
| Publisher: | Informa Healthcare |
| ISSN: | 1381-6810 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1080/13816810.2017.1350721 |
| PubMed ID: | 28812413 |
| Project Information: |
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Gerth-Kahlert, Christina