Glaucoma in the Maroteaux-Lamy Syndrome

Cantor, Louis B.; Disseler, Jean A.; Wilson, Fred M.

doi:10.1016/s0002-9394(14)73311-2

Cited by 56 publications

(39 citation statements)

References 8 publications

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“…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).…”

Section: Discussionmentioning

confidence: 99%

“…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). The current literature describes small numbers of MPS patients with glaucoma from single treatment centres with incomplete clinical details, including patients with MPS I (Quigley et al 1975;Spellacy et al 1980;Nowaczyk et al 1988;Mullaney et al 1996), MPS II (Kaiden et al 1982), MPS IV (Cahane et al 1990) and MPS VI (Cantor et al 1989). This multicentre retrospective case review aimed to determine the prevalence, characteristics and management of suspected glaucoma in patients with MPS.…”

Section: Introductionmentioning

confidence: 99%

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Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Ashworth

Flaherty

Pitz

et al. 2015

Acta Ophthalmologica

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Ashworth

Flaherty

Pitz

et al. 2015

Acta Ophthalmologica

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“…Previous case reports have described open angle glaucoma in MPS IH, 9,33,34 MPS IH/S, 35 and MPS VI. 36 Angle closure glaucoma has been reported in MPS IS Scheie, 37 MPS IH/S, 38 MPS II Hunter, 39 and MPS VI Maroteaux-Lamy. 36 In our study, there was a low incidence of ocular hypertension and glaucoma in all MPS I subgroups, with only one MPS IH Hurler patient and one MPS IH/S Hurler/Scheie patient having raised IOP.…”

Section: Discussionmentioning

confidence: 99%

“…36 Angle closure glaucoma has been reported in MPS IS Scheie, 37 MPS IH/S, 38 MPS II Hunter, 39 and MPS VI Maroteaux-Lamy. 36 In our study, there was a low incidence of ocular hypertension and glaucoma in all MPS I subgroups, with only one MPS IH Hurler patient and one MPS IH/S Hurler/Scheie patient having raised IOP. Ocular hypertension was more common in the MPS VI Maroteaux-Lamy patients, with 38% having IOP greater than 21 mmHg and a further 15% having IOP greater than 30 mmHg, perhaps due to the more marked corneal changes in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Ocular hypertension and glaucoma occur in MPS due to GAG acumulation within anterior chamber structures. This can lead to narrowing of the anterior chamber angle, 6,7 and deposition within trabecular cells may lead to obstruction of outflow. 8,9 Retinopathy occurs as a result of GAG accumulation within retinal pigment epithelial cells and interphotoreceptor matrix, leading to progressive photoreceptor loss.…”

Section: Introductionmentioning

confidence: 99%

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The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

123

193

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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.

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Metabolic Diseases

Martyn¹

Handbook of Pediatric Eye and Systemic Disease

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Glaucoma in the Maroteaux-Lamy Syndrome

Cited by 56 publications

References 8 publications

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

The ocular features of the mucopolysaccharidoses

Metabolic Diseases

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