Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome

BMJ Case Rep. 2014 Dec 9:2014:bcr2014207112. doi: 10.1136/bcr-2014-207112.

Abstract

We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye. Her visual acuity was 6/24 and counting fingers at 1 m in the right and left eyes, respectively. Her intraocular pressure was 15 mm Hg in both eyes. Evaluation of the right eye on slit lamp biomicroscopy under mydriasis revealed an inferiorly visible flattened and concave crystalline lens equator from 4 to 8 o'clock position along with notching and absence of zonules, suggestive of lens coloboma. Left eye examination revealed a superiorly subluxated lens from 3 to 9 o'clock position and posterior subcapsular cataract. The posterior segment evaluation of both eyes was normal. Her father, aunt and grandfather were of tall stature, characteristic of Marfan syndrome. On systemic evaluation, the patient was diagnosed as Marfan syndrome. After surgical correction she achieved vision of 6/6 in both eyes.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cataract / diagnosis
  • Cataract / etiology
  • Coloboma / diagnosis*
  • Coloboma / etiology
  • Coloboma / surgery
  • Ectopia Lentis / diagnosis*
  • Ectopia Lentis / etiology
  • Ectopia Lentis / surgery
  • Female
  • Humans
  • Intraocular Pressure
  • Lens, Crystalline / pathology*
  • Lens, Crystalline / surgery
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / pathology
  • Marfan Syndrome / surgery
  • Tonometry, Ocular
  • Vision, Low / diagnosis*
  • Vision, Low / etiology
  • Vision, Low / surgery
  • Visual Acuity