Glaucoma in siblings with Morquio syndrome.

Cahane, Michael; Treister, Giora; Abraham, Fabian A.; Melamed, S

doi:10.1136/bjo.74.6.382

Cited by 21 publications

(22 citation statements)

References 9 publications

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“…Glaucoma (Cahane et al 1990) and retinal degeneration (Dangel and Tsou 1985) have been reported in this disorder, although neither was a feature in our patients. The universal abnormality in MPS IV is fine corneal stromal clouding, which is present in all adult patients but may not be visible without slit-lamp examination.…”

Section: Ophthalmological Findingscontrasting

confidence: 58%

Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Northover¹,

Cowie

Je³

1995

J of Inher Metab Disea

144

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Patients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten. Management is inevitably multidisciplinary and the paediatrician should play a lead role in the coordination of services for affected patients. The timing of occipito-cervical fusion and the selection of patients for this procedure remain unclear. A prophylactic approach to surgery is suggested in this review, although it is by no means clear that all patients will invariably develop cervical myelopathy if left untreated. Parents of affected children need considerable support in dealing with the affected child and the children themselves need help to try to come to terms with their severe physical disabilities. The Society for Mucopolysaccharide Diseases (55 Hill Avenue, Amersham, Bucks HP6 5BX, UK) has offered many parents and affected individuals considerable help as well as raising significant sums for research. Finally, it is important to remember the genetic nature of the disease and the possibility of prenatal diagnosis in subsequent pregnancies.

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Section: Ophthalmological Findingscontrasting

confidence: 58%

Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Northover¹,

Cowie

Je³

1995

J of Inher Metab Disea

144

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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%

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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“…The boy we present shows all classical signs of Morquio A syndrome [2, 4, 6, 8, 10]. His visual acuity deteriorated from school age on and made reading impossible by the age of 9 years.…”

Section: Discussionmentioning

confidence: 96%

“…Diagnosis is made by the excessive excretion of keratan sulfate in the urine and by defining the enzyme defect in cultivated fibroblasts [5, 7, 8]. In the long course of the disease, however, keratan sulfaturia diminishes and may reach normal levels in the second half of life.…”

Section: Discussionmentioning

confidence: 99%

Ocular Changes in Mucopolysaccharidosis IV A (Morquio A Syndrome) and Long-Term Results of Perforating Keratoplasty

et al. 1999

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Background: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). Patient Presentation: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. Visual acuity OD cc = 0.16, OS cc = 0.05. Electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. Treatment and Course of Disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. Visual acuity now reduced to OD 0.05, OS 0.1. Conclusions: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation – even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.

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Glaucoma in siblings with Morquio syndrome.

Cited by 21 publications

References 9 publications

Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Ocular Changes in Mucopolysaccharidosis IV A (Morquio A Syndrome) and Long-Term Results of Perforating Keratoplasty

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