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Ocular morbidity in Marfan syndrome: a nationwide epidemiological study
  1. Sia Kjeldsen1,
  2. Niels Andersen2,
  3. Kristian Groth2,
  4. Dorte Larsen1,
  5. Jesper Hjortdal1,
  6. Agnethe Berglund3,
  7. Claus Gravholt3,4,
  8. Kirstine Stochholm4,5
  1. 1 Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark
  2. 2 Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark
  3. 3 Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
  4. 4 Department of Internal Medicine and Endocrinology, Aarhus University Hospital, Aarhus, Denmark
  5. 5 Centre of Rare Diseases, Pediatrics, Aarhus University Hospital, Aarhus, Denmark
  1. Correspondence to Dr Sia Kjeldsen, Aarhus University Hospital, Aarhus N 8200, Denmark; siakjeld{at}


Background Ophthalmic complications are profound in Marfan syndrome (MFS). However, the overall burden is not well described. Our purpose was to evaluate the ocular morbidity in a nationwide perspective.

Methods We identified the ocular morbidity in patients with MFS (n=407) by use of Danish national healthcare registers, using number and timing of hospital contacts related to ophthalmic diagnoses, to ophthalmic surgery and to prescriptions for ophthalmic medication. An age-matched and gender-matched background population (n=40 700) was used as comparator.

Results Among MFS, 56% (226/407) of the patients had at least one registration of an ophthalmic diagnosis as inpatient or outpatient during the study period (HR of 8.0 (95% CI 7.0 to 9.2)). Seven out of 11 main groups of diagnoses were affected, including ‘Lens’, ‘Choroid and retina’, ‘Ocular muscles, binocular movement, accommodation and refraction’, ‘Glaucoma’, Visual disturbances and blindness’, ‘Vitreous body and globe’, and ‘Sclera, cornea, iris and ciliary body’. The number of surgical procedures as well as the use of ophthalmic medication in patients with MFS was significantly increased.

Conclusion This nationwide epidemiological study of ocular morbidity in MFS demonstrates a profound burden and emphasises the need for thorough and experienced ophthalmological surveillance.

  • lens and zonules
  • retina
  • glaucoma
  • cornea
  • genetics

Data availability statement

All data relevant to the study are included in the article or uploaded as supplemental information. Not applicable.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplemental information. Not applicable.

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  • Correction notice This article has been updated since it was first published. The affiliation for author Agnethe Berglund has been corrected.

  • Contributors SK, NA, KG, CG and KS conceptualised and designed the study, designed the data collection, collected data, and carried out all analysis and calculations, drafted the initial manuscript and reviewed and revised the manuscript. DL, JH and AB supervised data collection, contributed to the design of the study and critically reviewed the manuscript. SK acted as guarantor, responsible for the overall content of the study.

  • Funding This study was supported by a grant from Aarhus University. No grant number available.

  • Disclaimer The funding organisation had no role in the design or conduct of this research.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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