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

Sarah G. Chaudhry, Adrian T. Fung

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose:
To describe a novel retinal finding of 22q.11 Microdeletion Syndrome.

Methods
and Patient: 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 as he was asymptomatic and the visual acuity remained 20/30 in that eye with over one year of follow-up.

Discussion and Conclusion:
22q.11 Microdeletion Syndrome can be associated with microvascular microangiopathy.
Original languageEnglish
JournalRetinal Cases and Brief Reports
DOIs
Publication statusE-pub ahead of print - 13 Jan 2021

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