What question did this study set out to answer?

The aim is to highlight the need for prompt diagnosis of rare autoinflammatory syndromes in cases of recurrent uveitis.

February 6, 2026Ocular Immunology and Inflammation0 citations

A Diagnostic Challenge: Recurrent Uveitis Leading to the Diagnosis of Hyper-IgD Syndrome in a 28-Year-Old Patient

JJJorge Salvo JiménezHospital Virgen de los Lirios TATeresa De Paz AguileraHospital Virgen de los Lirios MAMarta Mifsut AleixandreHospital Virgen de los Lirios

Key Points

The aim is to highlight the need for prompt diagnosis of rare autoinflammatory syndromes in cases of recurrent uveitis.
Case analysis of a 28-year-old patient exhibiting recurrent uveitis
Multidisciplinary approach including genetic testing
Evaluation of treatment efficacy between biological and conventional therapies
Timely genetic diagnosis identified Hyper-IgD syndrome
Biological treatments improved both visual and systemic outcomes
Conventional therapies showed lesser effectiveness compared to targeted biological interventions

Abstract

Recurrent uveitis, even in adult patients, should prompt the investigation of rare autoinflammatory syndromes. A timely genetic diagnosis and a multidisciplinary approach are crucial for initiating targeted biological treatments, which offer a superior visual and systemic prognosis compared to conventional therapies.

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