Prevalence and Clinical Features of Glaucoma in Pediatric Mucopolysaccharidosis Type I: A Retrospective Descriptive Study

Abstract

Objective: To evaluate the prevalence, clinical characteristics, diagnostic challenges, and therapeutic outcomes of glaucoma in children diagnosed with mucopolysaccharidosis type I          (MPS I). Methods: A retrospective descriptive study was conducted on 12 pediatric patients (aged 4–17 years) with confirmed MPS I, followed jointly by the Pediatrics and Ophthalmology departments of HMIMV Hospital, Rabat. Results: All patients exhibited corneal opacification with normal anterior chamber depth. The iridocorneal angle was open in seven cases. Pachymetry ranged from 580 to 735 μm (mean = 667 μm). Adjusted IOP ranged between 15 and 59 mmHg (mean = 20 mmHg). Three patients (25%) were diagnosed as glaucomatous or glaucoma suspects. Patients received enzyme replacement therapy, and the glaucoma was treated medically, with follow up showing significant improvement of IOP and Cup/Disc ratio.  Conclusion: Glaucoma represents a challenging but significant ocular manifestation of MPS I. Prevalence of glaucoma in MPSs patients (ranged from 2.1% to 12.5%) indicated that it was worthy of attention and further study so that quality of life for MPSs patients could be improved. Early, multimodal diagnostic evaluation and individualized management are crucial.