Publication: Unusual retinopathy in a child with severe combined immune deficiency
Unusual retinopathy in a child with severe combined immune deficiency
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Gerth-Kahlert, C., Tiwari, A., Hauri-Hohl, M. M., Hanson, J. V. M., Bahr, A., Palmowski-Wolfe, A., Güngör, T., & Berger, W. (2018). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics, 39, 92–94. https://doi.org/10.1080/13816810.2017.1350721
Abstract
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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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Creators (Authors)
- Gerth-Kahlert, Christina
- Tiwari, Amit
- Hauri-Hohl, Mathias M
- Hanson, James V M
- Palmowski-Wolfe, Anja
- Güngör, Tayfun
- Berger, Wolfgang
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Citations
Gerth-Kahlert, C., Tiwari, A., Hauri-Hohl, M. M., Hanson, J. V. M., Bahr, A., Palmowski-Wolfe, A., Güngör, T., & Berger, W. (2018). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics, 39, 92–94. https://doi.org/10.1080/13816810.2017.1350721
