Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Abstract

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.

Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases

“…In the retrospective case-note review carried out in four tertiary referral centers the prevalence of glaucoma in MPS patients ranged from 2.1% to 12.5% [4]. The limitation of this study was the incomplete diagnostic evaluation of many patients, which reflected the real life problems MPS patients and their ophthalmologists are facing.…”

“…The prevalence of glaucoma in MPS patients was assessed at 6.8% [4,5]. In MPS patients glaucoma most possibly is caused by the obstruction of the outflow through the trabecular meshwork [6].…”

“…Due to physical as well as mental handicaps in general none of the routinely practiced glaucoma diagnostic methods can be performed properly an reliably in MPS patients as a routine [4,8]. The most common problem is caused by the corneal clouding which impairs the evaluation of the optic nerve head, gonioscopy as well as visual field assessment.…”

Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe

“…The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG accumulated and the specific enzyme mutation(s) present. Multiple clinical features are seen in patients, such as cardiac involvement (common and early symptom), obstructive pulmonary disease, hearing impairment, ophthalmic disorders (e.g., corneal clouding, glaucoma, retinal degenerations) and musculoskeletal symptoms (e.g., short stature, joint stiffness or hyperlaxity, peripheral nerve entrapment) [3][4][5][6].…”

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses

“…To the best of our knowledge, this is the first large cohort to describe the ophthalmologic features in Asian patients with MPS. There was limited original literature focusing on comprehensive ocular findings in different types of MPS (Ashworth, Flaherty, Pitz, & Ramlee, ; Ashworth et al., ; Campos‐Campos, Pérez‐Torres, Villavicencio‐Torres, & González‐Vite, ; Collins, Traboulsi, & Maumenee, ; Couprie et al., ; Fahnehjelm et al., ; Suppiej et al., ; Villas‐Bôas, Fernandes Filho, & Acosta, ). Our study suggests that ocular complications with significant reduction in visual acuity are common in MPS patients.…”