JAMA Ophthalmology Clinical Challenge
May 2013

Retinal Vasculitis, Aneurysms, and Neovascularization in Blau Syndrome—Quiz Case

Author Affiliations


Author Affiliations: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.

JAMA Ophthalmol. 2013;131(5):677-679. doi:10.1001/jamaophthalmol.2013.413a

A 6-year-old white boy presented to our office for evaluation after failing 3 school vision screenings. On initial presentation, the patient's visual acuity was 20/800 OD and 20/20 OS with a right afferent pupillary defect. He saw 0/14 Ishihara color plates with his right eye and 13/13 with his left eye. A slitlamp examination was notable for rare cells in the anterior chamber of both eyes, in addition to 3+ cells and hemorrhage within the right vitreous, and rare vitreous cells were found in the left eye. A fundoscopic examination of the right eye revealed indistinct disc margins, neovascularization, extensive vascular sheathing, and obliteration of peripheral vessels. The left fundus had distinct disc margins, but there was marked disc neovascularization and arteriolar aneurysms.

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