Guideline Recommendations for HLA‑B27 Negative Anterior Uveitis

Diagnostic Approach

The 2018 consensus guidelines recommend that genetic testing beyond HLA‑B27 is not indicated for routine clinical practice in patients with HLA‑B27‑negative anterior uveitis, because the identified non‑HLA loci have not yet demonstrated validated diagnostic or risk‑stratification value (expert consensus) [1][2].

Genotyping of the newly identified loci (INAVA, NLRP3, NOS2, ERAP1, TNRC18, IL23R, HDAC2‑AS2) is currently unavailable commercially and is not clinically indicated, reflecting the lack of independent validation and actionable clinical thresholds (expert consensus) [1][2].

Patients with HLA‑B27‑negative anterior uveitis should be screened for symptoms of inflammatory bowel disease (e.g., chronic diarrhea, abdominal pain, unexplained weight loss) (moderate evidence) 3.
They should also be evaluated for inflammatory back pain (morning stiffness > 30 min, improvement with exercise, nocturnal pain), which may indicate underlying spondyloarthritis (moderate evidence) 3.
Assessment for peripheral arthritis or enthesitis is recommended as part of the broader spondyloarthropathy work‑up (moderate evidence) 3.

Approximately 10 % of ankylosing spondylitis cases are HLA‑B27 negative, underscoring that the absence of HLA‑B27 does not exclude a diagnosis of spondyloarthritis (moderate evidence) 3.