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Ocular morbidity in Marfan syndrome: a nationwide epidemiological study


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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