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Ophthalmic Genet. 2018 Jan-Feb;39(1):92-94. doi: 10.1080/13816810.2017.1350721. Epub 2017 Aug 16.

Unusual retinopathy in a child with severe combined immune deficiency.

Author information

1
a Department of Ophthalmology , University Hospital Zurich , Zurich , Switzerland.
2
b Institute of Medical Molecular Genetics , University of Zurich , Schlieren , Switzerland.
3
c Division of Stem Cell Transplantation and Children`s Research Center , University Children's Hospital Zurich , Zurich , Switzerland.
4
d Department of Ophthalmology , University Hospital Basel , Basel , Switzerland.
5
e Zurich Center for Integrative Human Physiology , University of Zurich , Zurich , Switzerland.
6
f Neuroscience Center Zurich, University and ETH Zurich , Zurich , Switzerland.

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:

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

PMID:
28812413
DOI:
10.1080/13816810.2017.1350721
[Indexed for MEDLINE]

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