Article
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center.
Ophthalmic surgery, lasers & imaging retina - 1 Jan 2018
Nascimento Heloisa, Sousa Jacqueline M, Fernández Délia González, Salomão Gustavo H A, Sato Elcio H, Muccioli Cristina, Belfort Rubens
Abstract excerpt
In a prospective case series of patients with Blau-Jabs syndrome (BJS) conducted in the Ophthalmology Department/Federal University of Sao Paulo, seven patients with clinical and ophthalmologic manifestations of the disease and a positive genetic test result for the presence of a mutation in the CARD15/NOD2 gene were followed for a minimal period of 1 year. All patients had uveitis, five had nummular corneal...
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