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aphakia
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
General
ocular lens disorder
developmental disorder
Database Correlations
OMIM 610256
References
- Dorland's Medical Dictionary, 23rd ed., WB Saunders,
Philadelphia, 1990
- OMIM :accession 610256