Unusual retinopathy in a child with severe combined immune deficiency

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.

KEYWORDS:

• SCID
• retinopathy
• LCA
• enterovirus
• whole exome sequencing (WES)

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

This study was funded by a grant from the Swiss National Science Foundation (Grant Number: 320030_138507) and from Velux Stiftung Switzerland to WB. The sponsor or funding organization had no role in the design or conduct of this research. JVH is partially funded by the Clinical Research Priority Programme of the University of Zurich and has received travel support and speaker’s fees from Biogen.

Additional information

Funding

This study was funded by a grant from the Swiss National Science Foundation (Grant Number: 320030_138507) and from Velux Stiftung Switzerland to WB. The sponsor or funding organization had no role in the design or conduct of this research. JVH is partially funded by the Clinical Research Priority Programme of the University of Zurich and has received travel support and speaker’s fees from Biogen.