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G. Modorati, E. Miserocchi, A. Colucci, P. Rama; Uveitis HLA A29 Positive: Birdshot Retinochoroidopathy, What Else?. Invest. Ophthalmol. Vis. Sci. 2008;49(13):794.
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the purpose of the present study was to retrospectively evaluate the ocular manifestations associated with the presence of HLA-A29 other than typical birdshot retinochoroidopathy.
retrospective study. Charts of 17 consecutive patients referred at the Ocular Immunology Service, San Raffaele Hospital - Milan with a diagnosis of intraocular inflammation who were found positivite for the presence of the HLA-A29 were reviewed. Main outcome measures evaluated were: demographic data, ocular features, systemic associated diseases, laboratory abnormalities, inclusion and exclusion criteria for birdshot retinochoroidopathy based on referred guidelines, definite ocular diagnosis.
17 patients were included in the study. Only three patients met the criteria for a definite diagnosis of birdshot retinochoroidopathy. In the other 14 patients (10 female and 4 male) the mean age at onset of intraocular inflammation was 41 years (27-80). The disease was bilateral in 11 patients and unilateral in 3 patients. Anterior segment ocular manifestations encountered were: iridocyclitis in 3 patients, keratic precipitates in 3 patients, posterior synechia in 2 patients, scleritis in 1patient, iris nodules in 1 patient. Posterior segment findings included: vitritis in 8 patients, retinal vasculitis in 7 patients, cystoid macular edema in 6 patients, papillitis in 4 patients, peripheral snow balls in 4 patients, multifocal chorioretinal lesions in 2 patients, peripheral chorio-retinal punctate atrophies in 1 patients, optic neuropathy in 1 patient. The standard serological work-up for intraocular inflammation showed the presence of anti-nuclear antibodies in 4 patients, positivity of the PPD skin test in 2 patients, presence of lupus like anticoagulant and anticardiolipin antibodies in one patient. One patient was initially diagnosed with birdshot retinochoroidopathy but during follow-up the lack of response to immunosuppressive treatment and a new work-up assessment showed a definite diagnosis of intraocular and CNS lymphoma. One patient had a definite diagnosis of lupus and another one of latent ocular tuberculosis.
although birdshot retinochoroidopathy is strongly related with the HLA-A29 phenotype and its presence confers a relative risk of disease, the definite diagnosis requires specific ocular characteristics. Different confounding features of ocular inflammation may be present and this should prompt the ophthalmologist to include other important differential diagnosis.
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