Purpose:

To report novel corneal findings in an individual diagnosed with pemphigus vulgaris (PV), and to demonstrate a potential role for anti-desmoglein 3 (DSG3) autoantibodies in the pathology of the corneal epithelium.

Methods:

Cutaneous and slit-lamp biomicroscopic examinations were performed on a 37-year-old African American woman. To identify anti-DSG autoantibodies an oral mucosal lesion biopsy and a serum sample were used in several immunoassays. DSG transcripts in normal donor cornea, and DSG proteins in both donor and PV corneas, were measured using qPCR and fluorescence-immunohistochemistry (F-IHC), respectively. F-IHC was also performed to determine the presence of IgG1 and IgG4 in both donor and PV corneas.

Results:

Clinical examination revealed oral mucosal erosions and active, chronic ocular surface inflammation with significant superficial corneal scarring in both eyes. Anti-DSG3 autoantibodies were detected in the serum using an enzyme-linked immunosorbent assay. Direct immunofluorescence of oral mucosal lesion biopsy revealed intraepidermal linear/granular immunoglobin G deposits, consistent with PV. Indirect immunofluorescence of the patient’s serum was negative, ruling out paraneoplastic pemphigus. All four DSG proteins were detected in normal donor cornea, while DSG3 showed a marked reduction in PV cornea. IgG4 was detected at the corneal epithelial cell-cell junctions in the PV cornea, which coincides with the observed reduction of DSG3.

Conclusions:

Although PV primarily involves the skin and oral mucosa, the corneal epithelium may also be affected. In the absence of any identifiable secondary cause, corneal pathology associated with PV is most likely mediated by IgG4 autoantibodies directed against DSG3 in the corneal epithelium.