22q.11 Microdeletion (DiGeorge) syndrome with microvascular maculopathy

Sarah G. Chaudhry, Adrian T. Fung

Research output: Contribution to journalArticlepeer-review


Purpose: To describe a novel retinal finding of 22q11 microdeletion syndrome. Methods: Retrospective chart review of a single patient. Results: A 32-year-old man with genetically confirmed 22q11.2 microdeletion syndrome was found to have bilateral tortuous retinal vessels and right microvascular microangiopathy with microaneurysms, hard exudate, and cystoid macular oedema. Other underlying causes for this including diabetic and hypertensive retinopathy were excluded. No treatment was required because he was asymptomatic, and the visual acuity remained 20/30 in that eye with over one year of follow-up. Conclusion: 22q11 microdeletion syndrome can be associated with microvascular microangiopathy.

Original languageEnglish
Pages (from-to)137-139
Number of pages3
JournalRetinal Cases and Brief Reports
Issue number2
Early online date13 Jan 2021
Publication statusPublished - 1 Mar 2023


  • 22q11.2 microdeletion syndrome
  • CMO
  • DiGeorge syndrome
  • microvascular maculopathy


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