Isolated congenital hereditary cataract in a dizygotic twin: prenatal ultrasonographic diagnosis

Twin Res Hum Genet. 2013 Oct;16(5):994-7. doi: 10.1017/thg.2013.50. Epub 2013 Aug 9.

Abstract

Cataract, defined as opacity of the lens in one or both eyes, is a major cause of blindness throughout the world, and not uncommon, particularly in the elderly population. However, congenital cataracts are rare and occur with a frequency of 30 cases in 100,000 births. About one-third of the cases fall into the group inherited without systemic abnormality. Importantly, congenital cataracts produce deprivation amblyopia, refractive amblyopia, and retinal detachment, leading to lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Here we present a case of hereditary bilateral cataracts in a dizygotic twin detected on prenatal ultrasound examinations and postnatally confirmed as congenital cataracts associated with posterior lenticonus.

Publication types

  • Case Reports

MeSH terms

  • Amblyopia
  • Cataract Extraction
  • Cataract* / congenital
  • Humans
  • Infant
  • Parturition
  • Prenatal Diagnosis
  • Retrospective Studies
  • Twins, Dizygotic*