ArticleJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2023
Incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis.
Article in Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Refractive Alterations in Marfan Syndrome: A Narrative Review.Medicina (Kaunas, Lithuania) · 2025Review
- Marfan syndrome: insights from animal models.Frontiers in genetics · 2024Review
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Authors and funding
3 authors.
Funding
Abstract
purposeTo investigate the population-based incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis.
methodsPatients newly diagnosed with Marfan syndrome in Olmsted County, Minnesota, from January 1, 1976, through December 31, 2005, were identified through medical records review. Outcome measures were Marfan incidence, de novo mutation rate, risk of ectopia lentis.
resultsMarfan syndrome was identified in 17 patients during the 30-year period, yielding an incidence of 0.52 per 100,000 people/year (95% CI, 0.27-0.77). Mean age at diagnosis was 24.4 years (range, 1.7 year to 51.3 years). Nine patients (53%) were female. Of the 17, 5 (29%) were new mutations, with a calculated mutation rate of 3.8 ± 1.7 × 10
conclusionsIncidence and de novo mutation rate of Marfan syndrome in this population-based cohort was higher than prior reports. Ectopia lentis, whose prevalence in North America has not been reported previously, occurred in approximately one-fourth of study patients and more commonly around the time of initial Marfan diagnosis.
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