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Marfan syndrome in an Iranian family: a case series

Mohammad Hossein Davari1, Toba Kazemi1

  • 1Birjand Atherosclerosis and Coronary Artery Research Centre, Birjand University of Medical Sciences, Birjand, Iran.

Iranian Journal of Medical Sciences
|July 18, 2014
PubMed

Insights

Marfan syndrome (MFS), an autosomal dominant genetic disorder, frequently causes severe ocular issues like lens ectopia. This family study highlights the high prevalence of various eye problems in MFS patients, necessitating surgical interventions.

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Case Studies

Background:

  • Marfan syndrome (MFS) is an autosomal dominant genetic disorder.
  • Ocular and cardiovascular complications are significant causes of morbidity and mortality in MFS.
  • This case study focuses on the ocular manifestations within a family exhibiting severe MFS penetrance.

Observation:

  • Twelve family members diagnosed with Marfan syndrome were studied.
  • Lens ectopia was universally present (100%) in affected family members.
  • Other observed ocular involvements included iris/ciliary muscle hypoplasia (50%), on gated eyeball (42%), flat cornea (30%), glaucoma/cataract (25%), and retinal detachment (16%).

Findings:

  • Lens ectopia is the most prevalent ocular finding in this MFS family.
  • A high incidence of diverse ocular abnormalities was documented across multiple generations.
  • Three family members required surgical intervention for ocular conditions.

Implications:

  • Early and comprehensive ophthalmic screening is crucial for Marfan syndrome patients.
  • Understanding the spectrum of ocular involvement aids in predicting disease progression and management.
  • This family's experience underscores the importance of genetic counseling and multidisciplinary care in Marfan syndrome.
Keywords:
Ectopia LentisEye ManifestationsMarfan syndrome

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