22q11 MICRODELETION (DIGEORGE) SYNDROME WITH MICROVASCULAR MACULOPATHY. Issue Volume 17:Issues 2(2023) (March 2023)

• Record Type: Journal Article
• Authors: Chaudhry, Sarah G.; Fung, Adrian T.
• Is Part Of: Retinal cases & brief reports. Volume 17:Issues 2(2023)
• Page Start: 137
• Page End: 139
• Publication Date: 2023-03
• Subjects: 22q11.2 microdeletion syndrome -- CMO -- DiGeorge syndrome -- microvascular maculopathy; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000001120
• Languages: English
• ISSNs: 1935-1089

Abstract

Abstract : 22q11 microdeletion syndrome has known ocular associations, the most common being tortuous retinal vessels. This case demonstrates a novel association of 22q11 syndrome—microvascular microangiopathy. Abstract : 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.