Sornalingam K, et al. - In order to evaluate the effect of different therapeutic interventions (enzyme replacement therapy or haematopoietic stem cell transplantation) on the ocular phenotype in mucopolysaccharidoses (MPSs) and to correlate the findings with genetic and biomarker data, authors prospectively studied the ocular features of patients with MPSI (Hurler/Hurler-Scheie/Scheie), MPSIV (Morquio) and MPSVI (Maroteaux-Lamy). Findings suggested variability of the ocular phenotype in MPS, with corneal clouding occurring in MPSI, MPSIV and MPSVI, and retinopathy in MPSI only. Corneal clouding was seen to be associated with the efficacy of systemic treatment as measured by biomarkers.