SERIOUS OPHTHALMOLOGIC COMPLICATIONS OF PRIMARY IMMUNODEFICIENCY PATIENTS

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conferenceObject
Data de publicação
2012
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SPRINGER/PLENUM PUBLISHERS
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JOURNAL OF CLINICAL IMMUNOLOGY, v.32, suppl.1, p.224-224, 2012
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Introduction: Primary immunodeficiencies (PID) are genetic diseases characterized by high susceptibility to infections. Although the manifestations affect all organs, there are few reports about ocular complications. Objective: To describe four patients with serious ophthalmologic complications in Brazilian patients followed at a reference center for PID. Methods: It was a retrospective study including patients with ocular serious complains. Medical records of 4 PID patients were evaluated for clinical data and the PID diagnosis was based on the PAGID/ ESID criteria. These patients underwent to ophthalmologic evaluation, including visual acuity, biomicroscopy and fundus examination. Ophthalmologic evaluation was done routinely only for AT and CHS diagnosis. Results: The PIDs patients included were: HLH, GCD, CMC and A-T. The HLH patient had a heterozygous mutation at the perforin gene (FHL type 2), CMC patient had a heterozygous mutation at STAT1. Ocular complains were: ocular pain, hyperemia, eyelids edema and strabismus and the characteristics of each patient were: - Female, 13y, CMC- conjunctivitis and eyelids edema with infraorbital infected papules. - Female, 6 mo, HLH- acute strabismus in consequence of neurological involvement by HLH. - Male, 15y, AT- herpes conjunctivitis and loss of vision in left eye. - Male, 9y CGD - Conjunctivitis in the left eye, progressing to edema and proptosis. The diagnosis was endophthalmitis granulomatous with loss of vision in left eye. Conclusion: Although not common in PID patients, the ocular complications may lead to loss of vision. The ophthalmologic evaluation would be routinely recommended for all PID patients to avoid important sequels.
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