Clinical Study
Eye (2006) 20, 553–563. doi:10.1038/sj.eye.6701921; published online 20 May 2005
The ocular features of the mucopolysaccharidoses
This work has been presented as a poster at the Royal College of Ophthalmologists Annual Congress, Manchester, May 2004 and as a presentation at the European Paediatric Ophthalmology Society meeting in Manchester, October 2004.
J L Ashworth1, S Biswas1, E Wraith2 and I C Lloyd1
- 1Manchester Royal Eye Hospital, Oxford Road, Manchester, UK
- 2Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK
Correspondence: J Ashworth, Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK. Tel: +44 161 276 1234; Fax: +44 161 273 6354; E-mail: Jane_Ashworth@btinternet.com
Received 18 October 2004; Revised 17 March 2005; Accepted 17 March 2005; Published online 20 May 2005.
Abstract
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.
Keywords:
mucopolysaccharidoses, Hurler, Scheie, Hunter, Sanfilippo, Maroteaux-Lamy
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