ABSTRACT
We report a case of probable Zaire Ebola virus-related ophthalmologic complications in a physician from the United States who contracted Ebola virus disease in Liberia. Uveitis, immune activation, and nonspecific increase in antibody titers developed during convalescence. This case highlights immune phenomena that could complicate management of Ebola virus disease-related uveitis during convalescence.
Subject(s)
Ebolavirus , Hemorrhagic Fever, Ebola/complications , Hemorrhagic Fever, Ebola/virology , Uveitis/diagnosis , Uveitis/etiology , Ebolavirus/genetics , Hemorrhagic Fever, Ebola/diagnosis , Humans , Liberia , Male , Tomography, Optical Coherence , Uveitis/drug therapyABSTRACT
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which has recently implicated in the pleiotropic syndrome Coats plus. This report confirms a molecular link between DC and Coats plus and expands the genotype-phenotype complexity observed in telomere-related genetic disorders.