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.
Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nurnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nurnberg P, Ragoussis J, Ragge NK
タイトル
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
