Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis.
Ashworth Jane, Flaherty Maree, Pitz Susanne, Ramlee Azura
AI Summary
This study found glaucoma in 2.1-12.5% of MPS patients, often diagnosed young. However, comprehensive diagnostic assessment was frequently incomplete, highlighting challenges in managing glaucoma in this complex patient group.
Abstract
Purpose
The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders, characterized by the accumulation of glycosaminoglycans within multiple organ systems including the eye. This study aimed to determine the prevalence of glaucoma in patients with MPS, as well as the characteristics, diagnosis and management of patients with MPS and glaucoma.
Methods
A multicentre retrospective case-note review was carried out by ophthalmologists from four tertiary referral centres to identify patients with MPS who had been treated for glaucoma. Clinical ophthalmological data were collected using standardized data collection forms.
Results
Fourteen patients were identified (27 eyes) of 294 patients with MPS. The prevalence of glaucoma ranged from 2.1% to 12.5%. The median age at diagnosis of glaucoma was 8 years. Diagnostic evaluation of glaucoma was incomplete in many patients: intraocular pressure was documented in all eyes, but optic disc appearance was only assessed in 67%, central corneal thickness in 26%, visual fields in 19% and iridocorneal angle in 15%.
Conclusions
Patients with MPS need regular assessment for possible glaucoma including during childhood. Multiple factors contribute to the challenges of assessment, diagnosis and monitoring of glaucoma in these patients.
MeSH Terms
Shields Classification
Key Concepts4
The prevalence of glaucoma in patients with mucopolysaccharidosis (MPS) ranged from 2.1% to 12.5% in a multicentre retrospective case-note review of 294 patients with MPS.
The median age at diagnosis of glaucoma in patients with mucopolysaccharidosis (MPS) was 8 years, as identified in a multicentre retrospective case-note review of 14 patients (27 eyes) with MPS who had been treated for glaucoma.
Diagnostic evaluation for glaucoma in patients with mucopolysaccharidosis (MPS) was incomplete in many patients; intraocular pressure was documented in all eyes, but optic disc appearance was assessed in only 67%, central corneal thickness in 26%, visual fields in 19%, and iridocorneal angle in 15% in a multicentre retrospective case-note review of 14 patients (27 eyes) with MPS.
Patients with mucopolysaccharidosis (MPS) need regular assessment for possible glaucoma, including during childhood, due to the challenges in assessment, diagnosis, and monitoring of glaucoma in these patients, as concluded from a multicentre retrospective case-note review of 14 patients (27 eyes) with MPS.
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