Extensive Subretinal Fibrosis Associated with Pseudoxanthoma Elasticum.

PURPOSE: To report an unusual case of pseudoxanthoma elasticum (PXE) presenting with an inflammatory phenotype associated with atypical and rapidly progressive subretinal fibrosis.

METHODS: Observational case report.

RESULTS: A patient with a history of pseudoxanthoma elasticum presented with rapidly progressive subretinal fibrosis, particularly in the left eye, over the course of one year. The patient was noted at presentation to have intraocular inflammation, outer retinal attenuation, multifocal choroiditis-like lesions, and intraretinal fluid (in the absence of obvious clinical or angiographic signs of exudative CNVM). An ocular inflammatory phenotype was diagnosed, and the patient was treated with a combination of local steroids and systemic corticosteroids/immunomodulatory agents. After initiation of these agents, there was demonstrated functional and structural improvement, with partial outer retinal reconstitution, decreased intraretinal fluid, and lack of further progression of subretinal fibrosis.

CONCLUSION: This report describes an inflammatory phenotype of PXE associated with severe and atypical subretinal fibrosis. This case expands upon the currently known spectrum of inflammatory phenotypes associated with PXE. Treatment with corticosteroids or immunomodulatory treatment should be considered in similar cases.