Uveitis is the most common form of inflammatory eye disease and is a significant cause of visual impairment and blindness. Uveitis specifically refers to inflammation of the layer of the eye known as the the ‘Uvea’ (the iris, ciliary body and choroid) but is commonly used to describe any inflammatory process involving the interior of the eye. Uveitis is classified anatomically into Anterior, Intermediate, Posterior and Pan-Uveitis. Anterior Uveitis involves inflammation of the anterior chamber and the iris and accounts for more than 90% of Uveitis referrals. Intermediate Uveitis involves inflammation of the vitreous cavity and Posterior Uveitis involves inflammation of the retina and choroid. Pan-Uveitis involves inflammation of all layers of the Uvea.
Uveitis onset is usually between the ages of 20 to 50 and is relatively uncommon in the very young (< 10 years of age) and in the elderly (> 70 years of age). Uveitis is often associated with a number of other seronegative spondyloarthropathies such as Ankylosing Spondylitis, Reactive Arthritis, Psoriatic Arthritis and Inflammatory Bowel Disease.
Twin and family studies have shown a strong association between susceptibility to Uveitis and the HLA-B*27 gene. HLA-B27 positive relatives of Uveitis patients are at higher risk of developing the disease than B27 positive individuals without an affected relative. However not all B27 positive individuals develop Uveitis, showing that HLA-B27 is often necessary but is not a sufficient genetic predisposing factor for the disease. Other non HLA genes may also be involved.
Studies of the frequencies of different HLA-B*27 alleles in HLA-B27 associated Uveitis in patients with other systemic diseases have revealed no significant difference in the frequencies of the alleles. In a recent study, the HLA*27:04 allele was found at a significantly lower frequency in Uveitis patients without other systemic diseases.
The association between HLA-B27 and Uveitis is not 100% which slightly limits its value as a diagnostic tool. However HLA-B27 testing may be of value in identifying a previously undiagnosed or misdiagnosed spondyloarthropathy among patients with recurrent Uveitis.
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