Ocular Manifestations of Inherited Phospholipase-Cγ2-Associated Antibody Deficiency and Immune Dysregulation

Abstract

Purpose: To report the ocular manifestations of phospholipase-Cγ2-associated antibody deficiency and immune dysregulation (PLAID).

Methods: Case report and literature review.

Results: A 21-year-old woman diagnosed with PLAID was referred for evaluation of repeated episodes of ocular inflammation resulting in bilateral peripheral corneal pannus with episcleritis and corneal scarring accompanied by systemic manifestations including epidermolysis bullosa and interstitial lung disease. Systemic immunosuppression with corticosteroids and interleukin-1 (IL-1) receptor antagonist (anakinra) was supplemented with topical anakinra to avoid systemic side effects, which resulted in partial improvement of the ocular symptoms. Oral prednisone was restarted to treat active lesions during bouts of inflammation.

Conclusions: Ocular PLAID is a bilateral chronic or recurrent inflammatory disease of the ocular surface leading to severe and early cicatricial ocular surface and corneal involvement because of high IL-1 production. Management of PLAID may require both topical and systemic immunomodulatory treatments, potentially including targeted local anti-IL-1 therapy.

Figure 1. Ocular surface findings in a 21-year-old woman with PLAID

Slit lamp examination showing images of the right (A) and left eye (B) with 360 degrees corneal scarring and superficial neovascularization and a central island of normal cornea. There is >50% thinning of the peripheral cornea in the right (C) and the left (D) eye. (E) Magnified image showing thinning of the peripheral cornea (arrow). (F) Subepithelial fibrosis in the lower tarsal conjunctiva of the right eye. All images were taken at the last follow up visit, 8 months after the initial presentation.