TY - JOUR
T1 - Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13
AU - Varrone, Emilia
AU - Lenhart, Phoebe
AU - Rao, Prethy
AU - Weil, Natalie
N1 - Publisher Copyright:
© 2022 American Association for Pediatric Ophthalmology and Strabismus
PY - 2022/8
Y1 - 2022/8
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jaapos.2022.04.003
DO - 10.1016/j.jaapos.2022.04.003
M3 - Article
C2 - 35697318
AN - SCOPUS:85134812591
SN - 1091-8531
VL - 26
SP - 207
EP - 210
JO - Journal of AAPOS
JF - Journal of AAPOS
IS - 4
ER -