Figure 3.
Infectious complications can precede onset of bone marrow failure in the short telomere syndromes. (A) Wide-field fundus photograph of CMV retinitis with intraretinal whitening (orange arrowheads) and necrosis along the retinal vasculature and progressing centrifugally. Image generously provided by Dr. Yonwook Kim of the Boston University Medical Center Department of Ophthalmology. (B) Chest CT image showing pleura-based patchy ground-glass opacities and interlobular septal thickening in a patient who developed P. jirovecii pneumonia in the background of interstitial lung disease and CMV retinitis that was ultimately fatal. (C) Lymphocyte telomere length by flowFISH in a patient with telomere-mediated primary T-cell immunodeficiency manifesting in fatal opportunistic infections.