A rare autoimmune disease that attacks pigment-bearing cells in the eyes, inner ear, meninges and skin, causing severe recurrent eye inflammation that can threaten vision. A study of 774 cases found a variant in the promoter of IL23R that lowers the gene's activity — in a disease where the affected genes are expressed in the eye's own pigmented tissue.
Vogt-Koyanagi-Harada (VKH) syndrome is a rare autoimmune disease that attacks melanocytes — pigment-bearing cells — wherever the body keeps them: the eyes, inner ear, the meninges around the brain, and skin. In the eye this produces severe, recurrent uveitis, inflammation inside the eye that can threaten vision without treatment. The disease can also cause hearing changes, headache from meningeal inflammation, and patches of skin or hair losing pigment.
Hou et al. 2014 ran a genome-wide association study in 774 cases and 2,009 controls, with two further replication stages, and reported three susceptibility loci beyond the already-known HLA association with this disease.
The variant on this page, rs117633859, sits in the promoter of IL23R. This catalogue's automated nearest-gene resolution labels it C1orf141, a neighbouring gene — which is why this page names IL23R explicitly rather than relying on that automated label. The paper's own causal analysis, not the position alone, is what points at IL23R.
The paper reports that the risk allele reduces IL23R transcriptional activity and is linked to lower IL23R mRNA expression in peripheral blood. Separately, it found that the five non-HLA genes it implicated — including IL23R — are expressed in human iris tissue, with two of them also expressed in the ciliary body and choroid. For a disease that specifically attacks the eye's pigmented structures, finding its risk genes active in exactly that tissue is a mechanistically consistent result, not merely a statistical one.
VKH typically presents with blurred vision, eye pain and redness, sometimes preceded by a flu-like illness, headache, or ringing in the ears. Untreated, the eye inflammation can recur and threaten vision permanently. It is diagnosed clinically — by an ophthalmologist recognising the pattern of eye findings, often alongside the hearing, neurological and skin features — and treated with immunosuppression, typically started early and aggressively because delayed treatment is associated with worse visual outcomes.
This page does not diagnose VKH and the variant here is not used to. The disease is rare, and diagnosis rests on the clinical eye examination and pattern of symptoms, not genotype. If VKH is suspected, the useful step is an ophthalmologist familiar with uveitis, promptly.
Other autoimmune conditions on this site involve different target tissues and different genetics; VKH's specific attack on pigment-bearing cells is what ties its risk genes together.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Vogt-Koyanagi-Harada Syndrome comes down to these specific, well-studied positions — not a diagnosis.
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Vogt-Koyanagi-Harada Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/vogt-koyanagi-harada-syndrome
No. It is a rare disease diagnosed by an ophthalmologist from the clinical pattern of eye inflammation, often alongside hearing, neurological and skin findings. The variant on this page shifts risk slightly and is not used diagnostically anywhere.
This catalogue's automated nearest-gene resolution can label a variant by physical proximity, which here lands on a neighbouring gene, C1orf141. The source paper's own functional analysis is what identifies IL23R as the gene the risk allele actually affects, which is why this page names it explicitly.
The study found that IL23R and the other risk genes it identified are expressed in human iris tissue — the eye's pigmented structure that VKH attacks. That is a mechanistically consistent finding for a disease that specifically targets pigment-bearing cells.
No — see an ophthalmologist, ideally one familiar with uveitis, promptly. VKH is diagnosed by clinical examination, and early treatment is linked to better visual outcomes; nothing on this page substitutes for that evaluation.
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