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Home > A. Molecular pathology > PAX6


Thursday 25 September 2003

Member of the PAXs family of proteins

PAX6 is a member of the paired box gene family (PAXs). It encodes a transcriptional regulator involved in oculogenesis and other developmental processes.


- PAX6 deletion

  • aniridia (absence of iris)
  • WAGR syndrome

- PAX6 germline mutations

  • type 2 aniridia
  • bilateral cataracts
    • congenital cataracts with late-onset corneal dystropohy
  • foveal hypolasia (macular hypoplasia)
  • autosomal dominant keratitis (MIM.148190)
  • corneal stem cell deficiency
  • ectopia pupillae (MIM.129750)
  • glaucoma
  • Peters anomaly
  • iris hypoplasia
  • corectopia
  • coloboma
  • ocular syndrome of presenile cataract and foveal hypoplasia (MIM.136520)
  • optic nerve coloboma
  • bilateral morning glory disc anomaly (MIM.120430)
  • foveal hypoplasia
  • congenital nystagmus
  • anterior segment anomalies (iris hypoplasia or atypical iris coloboma) (MIM.136520)
  • optic-nerve hypoplasia/aplasia
    • bilateral optic nerve aplasia (MIM.165550)
  • isolated foveal hypoplasia (MIM.136520)
  • persistent hyperplastic primary vitreous (12721955)
  • progressive retinal dystrophy
  • multiplex ocular anomalies associating Peters anomaly (MIM.604229), congenital cataract (MIM.604219), Axenfeld anomaly, and/or foveal hypoplasia (MIM.136520).


- Kozmik Z. Pax genes in eye development and evolution. Curr Opin Genet Dev. 2005 Aug;15(4):430-8. PMID: 15950457

- van Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet. 2002 May 15;11(10):1161-7. PMID: 12015275

- Gehring WJ, Ikeo K. Pax 6: mastering eye morphogenesis and eye evolution. Trends Genet. 1999 Sep;15(9):371-7. PMID: 10461206