Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective

Ohden, Kaitlyn L.; Pitz, Susanne; Ashworth, Jane; Magalhães, Augusto; Marinho, Diane Ruschel; Lindahl, Päivi; Fahnehjelm, Kristina Teär; Summers, C. Gail

doi:10.1136/bjophthalmol-2016-308807

Cited by 25 publications

(34 citation statements)

References 22 publications

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“…A very recent study by many authors [ 31 ] carried out a comprehensive review of keratoplasty in 32 patients from seven countries (Brazil, England, Finland, Germany, Portugal, Sweden, and USA; 16 bilateral and 16 monolateral) found that PKP was performed in 45 of the cases while DALK was only performed in three; at the last follow-up, successful results were reported in 63% of the first/only operated eye. Rejection episodes occurred in 23% of grafts.…”

Section: Introductionmentioning

confidence: 99%

Ocular features in mucopolysaccharidosis: diagnosis and treatment

2018

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Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in different parts of the eye. Ocular problems are very common in MPS children, and the cornea, sclera, trabecular meshwork, retina, and optic nerve may all be involved. Early diagnosis is very important to preserve the visual function, and the diagnosis requires experience and different evaluations. Follow-up is mandatory to allow a correct pathway to consequent therapy. This article aims to provide a review of ocular alterations and treatment options in MPS. The ophthalmologist is sometimes the first physician who can suspect a metabolic disease and can help to make the correct diagnosis. It is important to stimulate awareness of MPS among ophthalmologists.

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Section: Introductionmentioning

confidence: 99%

Ocular features in mucopolysaccharidosis: diagnosis and treatment

2018

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“…Clear corneal grafts can be achieved for patients with MPS VI who have corneal clouding, and may result in improvements in visual acuity [105]. Rejection episodes have been reported following corneal transplantation in patients with MPS VI; however, it should be noted that most occurred in those who were transplanted at a younger age (13–28 years old) [105, 106]. Generally, the recurrence of corneal deposits has not been reported in patients with MPS VI [105, 106].…”

Section: Resultsmentioning

confidence: 99%

“…The choice of surgical technique for corneal transplantation (deep anterior lamellar keratoplasty [DALK] or penetrating keratoplasty [PK]) should be made on a case-by-case basis. There is some evidence from the general population to suggest that rejection is more likely to occur following PK than DALK [106–108]; as such, DALK should be considered as the first approach in patients with MPS VI.…”

Section: Resultsmentioning

confidence: 99%

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Akyol

Alden

Amartino

et al. 2019

Orphanet J Rare Dis

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Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N -acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI. Methods 26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance). Conclusion This manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS VI and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps. Electronic supplementary material The online version of this article (10.1186/s13023-019-1080-y) contains supplementary material, which is available to authorized users.

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“…In the current study, one of our patients was referred for surgical corneal intervention, but chose to postpone surgery as the binocular visual acuity at that time was still 0.3. Although penetrating keratoplasty has been reported to be successful , there is a risk of re‐accumulation of glucoseaminoglycans in the donor keratocytes . Studies have showed successful outcomes with deep anterior lamellar keratoplasty in children with MPS .…”

Section: Discussionmentioning

confidence: 99%

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants

et al. 2018

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Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective

Abstract: Clear corneal grafts can be obtained for patients with corneal clouding due to mucopolysaccharidosis with improvement in visual acuity in the majority.

Cited by 25 publications

References 22 publications

Ocular features in mucopolysaccharidosis: diagnosis and treatment

Ocular features in mucopolysaccharidosis: diagnosis and treatment

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants

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