Trisomy 13 (Patau syndrome)
Reviewer: Deepali Jain, M.D. (see Reviewers page)
Revised: 29 September 2014, last major update January 2013
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- Almost all patients have severe ocular abnormalities
- 80% have microphthalmos (abnormally small eyes), cyclopean synophthalmus (fused eyes),
(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
Cyclopia with proboscis
End of Eye > General > Trisomy 13 (Patau syndrome)
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