Johannes Birtel

Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy

Abstract Purpose Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A. This study describes the long-term evolution of retinal findings in genetically confirmed FD patients, who have been receiving enzyme repl...

Unilateral vitreoretinal proliferation and retinal vessel tortuosity in Proteus syndrome

Fig. 1 Full size image Multimodal retinal imaging of a 29-year-old woman of African descent with Proteus syndrome [ 1 , 2 ], showing tortuous retinal vessels with vitreoretinal proliferation along the superior vascular arcade in the left eye ( A , B ). The left half of the head w...