Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

PURPOSE Although clinical ophthalmologic findings have been reported, no study documented magnetic resonance imaging (MRI) findings in mucopolysaccharidosis (MPS) type VI. The aim of this study was to determine the ophthalmologic imaging findings of MPS type VI in the pediatric age group retrospectively. METHODS Brain MRIs of 10 patients with MPS type VI and 49 healthy children were evaluated independently by two pediatric radiologists for the following characteristics: globe volume, ocular wall thickness, and optic nerve sheath diameter for each orbit. The means of the measurement of each group were compared by using an independent t-test. Agreement and bias between reviewers were assessed by intra-class correlation coefficients (ICC). RESULTS A total of 59 children [32 girls (54.23%), 27 boys (45.77%); age range, 4-16 years; mean age, 10.37 +/- 3.73 years] were included in the study. Statistical analysis revealed smaller eyeballs and thicker ocular walls of patients with MPS type VI (P <.001 and P <.001, respectively). However, there was no statistically significant difference in terms of optic nerve sheath diameter between the two groups (P =.648). CONCLUSION Patients with MPS type VI displayed reduced globe volumes and increased ocular wall thicknesses compared to the healthy children. Therefore, we recommend that ophthalmologic imaging findings might prove to be an auxiliary tool in the diagnosis of MPS patients.

Automated summary

This study retrospectively examined the ophthalmologic imaging findings of patients with MPS VI, and found that these patients had smaller eyeballs and thicker ocular walls compared to healthy children. Therefore, ophthalmologic imaging findings might serve as an auxiliary tool in the diagnosis of MPS patients.