aphakia

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Introduction

Congenital absence of the crystalline lens of the eye

Epidemiology

rare

Pathology

  • early developmental arrest, around the 4th-5th week of gestation that prevents formation of any lens structure & leads to severe secondary ocular defects, including aplasia of anterior segment of eye (primary congenital aphakia)
  • in secondary aphakia, lens induction has occurred, & lens vesicle has developed to some degree but finally has progressively resorbed perinatally resulting in less-severe ocular defects

Genetics

  • associated with defects in FOXE3 gene

More general terms

References

  1. Dorland's Medical Dictionary, 23rd ed., WB Saunders, Philadelphia, 1990
  2. OMIM https://mirror.omim.org/entry/610256

Database