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April 11, 2026Eye0 citationsOpen Access

Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review

MAMohammad AnasThomas Jefferson University ABAndrew C. Browning SLSiying Lin

Puntos clave

The aim is to define retinal phenotypes associated with AIRE gene deficiency in patients with APS1.
Retrospective case note review of patients with molecularly confirmed APS1.
Analysis of clinical history, multimodal retinal imaging, electrophysiology, and genetic data.
Histopathology evaluation in one postmortem case.
Five unrelated female patients reviewed, average onset age of 14 years.
Three distinct pathogenic AIRE variants identified.
Retinal findings ranged from normal to advanced degeneration, with one case showing zonal atrophy.
Two cases demonstrated durable vision preservation with immunomodulation, including one with sustained improvement using rituximab.

Resumen

Abstract 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 deficiency in a multicentre case series of patients with APS1. Methods We performed a retrospective case note review of patients with molecularly confirmed APS1 from tertiary ophthalmic centres. Clinical history, multimodal retinal imaging, electrophysiology, genetic data, and treatment regimens were analysed. Histopathology was available in one case postmortem. Results Records were reviewed from five unrelated female patients. Median age was 14 years at onset of ocular involvement and 33 years at most recent follow up. Some findings from two cases have been previously reported. Three distinct pathogenic AIRE variants contributing to biallelic genotypes were observed. Retinal findings ranged from structurally and functionally normal to advanced degeneration. One patient demonstrated sharp zonal atrophy on histopathology. Inflammatory features predominated in two cases, both showing durable vision preservation with periocular or systemic immunomodulation. One patient demonstrated four years of disease stabilisation with rituximab. No consistent genotype-phenotype correlation emerged. Conclusion AIRE -associated retinopathy encompasses a diverse spectrum, from clinically silent to profound degeneration. Early, targeted immunomodulation might preserve vision in selected cases. These findings advocate for ophthalmic surveillance in APS1, and support further investigation into predictive biomarkers and possible tailored immunotherapy in this vision-threatening autoimmune disorder.

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