Purpose: To describe a case of bilateral panuveitis in an 11-year-old girl with autoimmune lymphoproliferative syndrome (ALPS) due to CTLA4 haploinsufficiency.
Case description: A 5-year-old girl developed cervical adenopathy, and autoimmune hemolytic anemia and thrombocytopenia consistent with Evan's Syndrome. She was subsequently diagnosed with autosomal dominant CTLA4 haploinsuffciency and treated with immunosuppressants. Ocular symptoms developed 6 years later when she complained of blurry vision and photophobia. There were 3+ anterior chamber cells and 1+ flare, stellate keratic precipitates, and 3+ vitreous cells in both eyes. On fluorescein angiography, there was staining along the arcades and peripheral perivascular leakage in both eyes. On indocyanine green angiography, there were hypofluorescent spots throughout the posterior pole. The inflammation was partially responsive to topical and oral corticosteroids.
Conclusion: Panuveitis may be associated with ALPS due to CTLA4 haploinsufficiency. Retinal and choroidal involvement should be assessed when anterior chamber inflammation is the presenting sign.
Keywords: ALPS; CTLA4 haploinsufficiency; autoimmune lymphoproliferative syndrome; uveitis.