Microphthalmia and orbital cysts in DiGeorge syndrome

Arthika Chandramohan, Connie Martin Sears, Laura C. Huang, Shannon Beres, Douglas Fredrick, Andrea Lora Kossler

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish
Pages (from-to)358-360
Number of pages3
JournalJournal of AAPOS
Issue number6
StatePublished - Dec 2021
Externally publishedYes


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