The ocular features of the mucopolysaccharidoses

Title

The ocular features of the mucopolysaccharidoses

Creator

Ashworth JL; Biswas S; Wraith E; Lloyd IC

Publisher

Eye (london, England)

Date

2006

Subject

Child; Female; Humans; Male; Adult; Follow-Up Studies; adolescent; Preschool; infant; Q3 Literature Search; retrospective studies; Corneal Opacity/etiology; Eye Diseases/etiology; Mucopolysaccharidoses/complications; Mucopolysaccharidosis I/complications; Mucopolysaccharidosis VI/complications; Ocular Hypertension/etiology; Optic Atrophy/etiology; Papilledema/etiology; Vision Disorders/etiology; Visual Acuity

Description

AIMS: The mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. This study aimed to determine the prevalence and severity of ocular complications in patients with MPS. METHODS: Clinical ophthalmic features and electrodiagnostic results of 50 patients with a diagnosis of MPS were retrospectively reviewed. RESULTS: A total of 79% of MPS IH patients had a visual acuity of less than 6/12 equivalent in their better eye, compared to 44% of MPS IH/S and 25% of MPS VI patients. In total, 16% of MPS IH and 25% of MPS IH/S had severe corneal opacification, compared to 38% of MPS VI patients. 16% of MPS IH patients had optic atrophy; 21% of MPS VI patients had mild disc swelling, 29% had markedly swollen discs, and 14% had optic atrophy. One patient with MPS IH, one with MPS IH/S and six with MPS VI had ocular hypertension. One MPS VI patient had glaucoma that required topical therapy. Nine patients with MPS IH had electrodiagnostic evidence of retinopathy, as did one MPS VI patient. CONCLUSIONS: Ocular complications causing significant reduction in vision are common in MPS. The majority of MPS I and MPS VI patients have corneal opacification, which can lead to difficulties in diagnosis and monitoring of glaucoma, optic disc changes, and retinopathy.
2006

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

553-563

Issue

5

Volume

20

Citation

Ashworth JL; Biswas S; Wraith E; Lloyd IC, “The ocular features of the mucopolysaccharidoses,” Pediatric Palliative Care Library, accessed September 20, 2021, https://pedpalascnetlibrary.omeka.net/items/show/13630.

Social Bookmarking