Mandibular condyle morphology among patients with mucopolysaccharidosis: An observational study of panoramic radiographs.

Background: Mucopolysaccharidoses (MPS) are a group of rare metabolic diseases characterized by a wide spectrum of symptoms including progressive condylar resorption.

Aim: The aim of this study was to quantify the severity of condylar involvement in MPS I individuals in comparison with a group of non-MPS individuals and to describe how condylar changes may vary among the different types of MPS.

Design: Fifty panoramic radiographs of MPS patients (13.

Retinal hyperreflective foci in Fabry disease.

Background: Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance.

Methods: 54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included.