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).
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA, Viral / genetics
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Enterovirus / genetics
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Enterovirus / isolation & purification
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Enterovirus Infections / diagnosis*
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Enterovirus Infections / virology
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Exome Sequencing
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Eye Infections, Viral / diagnosis*
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Eye Infections, Viral / virology
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Feces / virology
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Female
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Follow-Up Studies
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Humans
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Infant
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Polymerase Chain Reaction
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Retinal Diseases / diagnosis*
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Retinal Diseases / virology
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Severe Combined Immunodeficiency / diagnosis*
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Severe Combined Immunodeficiency / therapy
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Severe Combined Immunodeficiency / virology
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Stem Cell Transplantation
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Vision, Low / diagnosis