Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13

Abstract

Trisomy 13 is associated with a variety of ocular findings. As more children with trisomy 13 survive beyond their first year of life, early identification and awareness of associated ocular manifestations is increasingly important. This retrospective case series of 5 patients with trisomy 13 expands on what is known about the complex ocular findings associated with the condition and describes their clinical management, with a mean follow-up of 2 years. All 5 patients had microphthalmos and colobomas of the iris, 4 had corneal opacities, and 2 had kerato-irido-lenticular dysgenesis associated with glaucoma. In addition, these patients were found to have recurrent eyelid infections, congenital glaucoma, cataracts, and persistent fetal vasculature. All 5 patients had cerebral visual impairment.