The ocular features of the mucopolysaccharidoses

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.

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

“…Although several case reports have previously described glaucoma in patients with MPS I (Quigley et al 1975;Lalive d'Epinay & Rem e 1978;Spellacy et al 1980;Nowaczyk et al 1988;Girard et al 1994;Mullaney et al 1996;Sato et al 2002;Lala-Gitteau et al 2007), MPS II (Kaiden et al 1982;Tchan et al 2011), MPS IV (Cahane et al 1990) or MPS VI (Cantor et al 1989), the prevalence of glaucoma has never been specifically described in a multinational population comprising multiple MPS types. A single-centre retrospective study evaluated 50 MPS patients, finding only 1 MPS VI patient with glaucoma (Ashworth et al 2006). One of 24 patients with MPSIVA from Taiwan (7%) had glaucoma (Lin et al 2014).…”

“…Corneal clouding may be present from an early age in MPSI and VI (Ashworth et al 2006;Ferrari et al 2011;. Open-angle glaucoma may be caused by GAG deposits within the trabecular meshwork, causing outflow obstruction, while angle-closure glaucoma may result from changes in anterior segment morphology as a result of GAG accumulation (Ahmed et al 2014).…”

A case of Hunter syndrome with bilateral retinal detachment

“…1 Ocular manifestations of mucopolysaccharidoses include corneal opacification, glaucoma, pigmentary retinopathy, and optic atrophy due to deposition of glycosaminoglycans in various structures of the eye. 2 HS is distinct in the absence of corneal features, exhibits a wide variation in clinical severity, and generally presents with learning disability and seizures. 2 The retinopathy in HS is due to deposition of glycosaminoglycans in the retinal pigment epithelium and interphotoreceptor matrix leading to progressive photoreceptor loss.…”

“…2 HS is distinct in the absence of corneal features, exhibits a wide variation in clinical severity, and generally presents with learning disability and seizures. 2 The retinopathy in HS is due to deposition of glycosaminoglycans in the retinal pigment epithelium and interphotoreceptor matrix leading to progressive photoreceptor loss. High-resolution OCT of the retina in HS has shown marked thinning of the outer retina, especially the photoreceptor layer.…”

VII-3 : DYSFONCTIONNEMENTS VISUELS ASSOCIÉS À QUELQUES MALADIES PÉDIATRIQUES MÉTABOLIQUES, SYSTÉMIQUES et NEUROLOGIQUES. Apport du bilan électrophysiologique Deuxième partie

“…Elle est retrouvée chez 14 % des sujets atteints de différents types de mucopolysaccharidoses (Ashworth et al, 2006b), mais de façon plus fréquente chez les patients souffrant de mucopolysaccharidose de type I. Un épaississement du nerf optique est présent à un stade précoce de la maladie (Schumacher R.G. et al, 2008), avec parfois un oedème papillaire visible au fond d'oeil (Collins, Traboulsi & Maumenee, 1990).…”