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

Sarah G. Chaudhry; Adrian T. Fung

doi:10.1097/ICB.0000000000001120

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

Sarah G. Chaudhry, Adrian T. Fung

Macquarie Medical School

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	137-139
Number of pages	3
Journal	Retinal Cases and Brief Reports
Volume	17
Issue number	2
Early online date	13 Jan 2021
DOIs	https://doi.org/10.1097/ICB.0000000000001120
Publication status	Published - 1 Mar 2023

Keywords

22q11.2 microdeletion syndrome
CMO
DiGeorge syndrome
microvascular maculopathy

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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.",

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N2 - 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.

AB - 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.

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

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