<b>Abbreviations:</b> SWS = Stuve-Wiedemann syndrome, IVCM = in vivo confocal microscopy, CNTF = ciliary neurotrophic factor, BCVA = best corrected visual acuity, LIFR = Leukemia Inhibitory Factor Receptor, IGF1 = Insulin-like growth factor-1. The gene discussed is LIFR; the disease is Stuve-Wiedemann syndrome.