Supplementary Data

• Supplementary Figure 1 - Ophthalmoscopy of patient No. 3 reveals bilateral optic disc fibrosis. This is a very characteristic finding that was present in all seven of our patients with the syndrome of polycythemia, paraganglioma/pheochromocytoma and somatostatinoma; abbreviations: RE=right eye; LE=Left eye; (PDF 222 KB)
• Supplementary Figure 2 - Functional imaging with [¹⁸F]-FDG, [¹⁸F]-FDOPA, and [¹⁸F]-FDA PET/CT, respectively, in patient No. 4. Four abdominal lesions are depicted using [¹⁸F]-FDOPA, three lesions are visualized using [¹⁸F]-FDA, but only one lesion with faint uptake is seen using [¹⁸F]-FDG. All lesions are indicated with black arrows. (PDF 192 KB)
• Supplementary Table 1 - Clinical presentation of patients (PDF 84 KB)
• Supplementary Table 2 - Detailed quantitative anatomical and functional imaging characteristics of patients (PDF 54 KB)
• Supplementary Table 3 - Studies and reports with patients carrying HIF2A mutations (PDF 128 KB)