Cite this page: Jain, D. Trisomy 13 (Patau syndrome). PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/eyetrisomy13.html. Accessed March 22nd, 2018.
Definition / general
- Almost all patients have severe ocular abnormalities
- 80% have microphthalmos (abnormally small eyes), cyclopean synophthalmus (fused eyes), colobomas, cataracts (Am J Ophthalmol 2006;141:1057) or persistent hyperplastic primary vitreous
- 75% have retinal dysplasia (tubular and rosette like structures)
- 65% have cartilage within coloboma
- 60% have anterior chamber dysgenesis (defective development of cornea, iris or anterior chamber angle), often associated with congenital glaucoma
- 2 month old infant girl with tarsal kink (Ophthal Plast Reconstr Surg 2003;19:408)