2020–2021 BCSC Basic and Clinical Science Course™
6 Pediatric Ophthalmology and Strabismus
Part II: Pediatric Ophthalmology
Chapter 24: Uveitis in the Pediatric Age Group
Familial Juvenile Systemic Granulomatosis
Familial juvenile systemic granulomatosis (Blau syndrome) is an autosomal dominant disease that may be identical to early-onset sarcoidosis; both are classified as pediatric granulomatous arthritides. In both diseases, there are mutations in the nucleotide binding oligomerization domain containing 2 gene (NOD2) on chromosome 16; however, in Blau syndrome, other family members are affected. Both diseases present with granulomatous arthritis, uveitis, and rash during childhood, but pulmonary involvement and lymphadenopathy are absent in Blau syndrome. Chronic panuveitis associated with multifocal choroiditis is the most common ocular presentation; in some cases, the uveitis may be limited to the anterior segment and the disease misdiagnosed as JIA. Ocular complications, including cataract, glaucoma, band keratopathy, and vision loss, are common.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.