Congenital primary aphakia

Definition:

Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caused by mutations in FOXE3, a lens-specific transcription factor.

References:

[1]. Olga Medina-Martinez, et al. Foxe view of lens development and disease. Development. 2007 Apr;134(8):1455-63. [Content Brief]

[2]. Sibel Ugur Iseri, et al. Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat. 2009 Oct;30(10):1378-86. [Content Brief]

[3]. Sophie Valleix, et al. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet. 2006 Aug;79(2):358-64. [Content Brief]

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