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Revista Brasileira de Oftalmologia

Print version ISSN 0034-7280On-line version ISSN 1982-8551

Abstract

SANTANA, João Carlos Dominice et al. Blau Syndrome: subepithelial infiltrates as uncommon ophthalmologic manifestation. Rev. bras.oftalmol. [online]. 2019, vol.78, n.1, pp.62-64. ISSN 1982-8551.  https://doi.org/10.5935/0034-7280.20190015.

The Blau syndrome is an autosomal dominant hereditary disease which can also occur sporadically via “de novo” mutation. Overall it has early onset and its classic triad includes arthritis, dermatitis and uveitis. This paper describes clinical and mainly especially ophthalmologic manifestations of a patient diagnosed with Blau syndrome with emphasis on an uncommon finding of corneal subepithelial infiltrates, rarely described in the literature.

Keywords : Uveitis/etiology; Uveitis/genetics; Cornea; Arthritis/genetics; Dermatitis/genetics; Child.

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