Article
Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.
Eye (London, England) - 1 Jun 2026
Anas Mohammad, Browning Andrew C, Lin Siying, Mahroo Omar A, Webster Andrew R, Reynolds Margaret, Milman Tatyana, Eagle Ralph C, Vile Richard, Toso Marc, Hageman Gregory S, Nazari Hossein, Van Kuijk Erik J, Pulido Jose S
Abstract excerpt
BACKGROUND/OBJECTIVE: Retinal involvement in autoimmune polyendocrine syndrome type 1 (APS1), a rare monogenic autoimmune disorder caused by mutations in the AIRE gene, is increasingly recognised but remains poorly defined. Prior reports suggest a variable phenotype, ranging from mild changes to severe vision loss, often presumed untreatable. We explored the range of retinal phenotypes associated with AIRE gene...
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