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22q11 MICRODELETION (DIGEORGE) SYNDROME WITH MICROVASCULAR MACULOPATHY
Sarah G Chaudhry1, Adrian T Fung1,2,3
1Westmead Hospital, Sydney, Australia.
22q11.2 microdeletion syndrome can manifest with unique retinal abnormalities, including tortuous vessels and microvascular microangiopathy. This case highlights a previously undescribed ocular finding in individuals with this genetic condition.
Area of Science:
- Ophthalmology
- Genetics
- Vascular Biology
Background:
- 22q11.2 microdeletion syndrome is a genetic disorder with diverse clinical manifestations.
- Ocular findings in 22q11.2 microdeletion syndrome are not well-characterized.
- Microvascular abnormalities can occur in various genetic syndromes.
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