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The systemic mucopolysaccharidoses are complex syndromes, which may include corneal clouding as a mechanism leading to decreased vision and hence decreased quality of life. This study presents three young adult patients with mucopolysaccharidoses in order to compare their visual status through retrospective chart review, including patient and guardian interview, history, and examination, including a modified form of the VF-14 questionnaire (visual function with 14 questions). When the visual acuity and VF-14 results of the three patients were compared, the results of the VF-14 correlated with the patients" visual acuity status. The two patients who retained clear corneas or underwent penetrating keratoplasty had a wider range of social and physical activities, and an overall better quality of life than did the patient with decreased vision due to opacified corneas. We conclude that close monitoring of the ocular health of patients with storage syndromes that may compromise visual acuity must be stressed, and intervention to insure good vision is of the utmost importance to maintaining a good quality of life for these patients, especially as new therapies assist these patients to achieve increased longevity with better health.

Quality of Life Related to Visual Function in Three Young Adults with Mucopolysaccharidoses