TY - JOUR
T1 - Microphthalmia and orbital cysts in DiGeorge syndrome
AU - Chandramohan, Arthika
AU - Sears, Connie Martin
AU - Huang, Laura C.
AU - Beres, Shannon
AU - Fredrick, Douglas
AU - Kossler, Andrea Lora
N1 - Publisher Copyright:
© 2021 American Association for Pediatric Ophthalmology and Strabismus
PY - 2021/12
Y1 - 2021/12
N2 - We report the case of a 4-month-old boy diagnosed with DiGeorge syndrome with novel ocular features. The patient was diagnosed through genetic testing, with a noted 22q11.2 deletion, and had the additional clinical findings of cardiac anomalies, Hirschsprung's disease, and intracranial microhemorrhages. Eye findings included bilateral microphthalmia, persistent fetal vasculature, chorioretinal coloboma, and a unilateral orbital cyst. Given no known additional inciting exposures, a dysgenic mechanism resulting in failed closure of developmental fissures associated with the chromosomal deletion likely gave rise to these combined pathologies.
AB - We report the case of a 4-month-old boy diagnosed with DiGeorge syndrome with novel ocular features. The patient was diagnosed through genetic testing, with a noted 22q11.2 deletion, and had the additional clinical findings of cardiac anomalies, Hirschsprung's disease, and intracranial microhemorrhages. Eye findings included bilateral microphthalmia, persistent fetal vasculature, chorioretinal coloboma, and a unilateral orbital cyst. Given no known additional inciting exposures, a dysgenic mechanism resulting in failed closure of developmental fissures associated with the chromosomal deletion likely gave rise to these combined pathologies.
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U2 - 10.1016/j.jaapos.2021.06.001
DO - 10.1016/j.jaapos.2021.06.001
M3 - Article
C2 - 34597781
AN - SCOPUS:85118859219
SN - 1091-8531
VL - 25
SP - 358
EP - 360
JO - Journal of AAPOS
JF - Journal of AAPOS
IS - 6
ER -