Histopathologic study of autosomal dominant vitreoretinochoroidopathy in a 26-year-old woman

The clinicopathologic findings were obtained from enucleated eyes, obtained post mortem, of a 26-year-old woman with autosomal dominant vitreoretinochoroidopathy. Light microscopy demonstrated atrophic, disorganized peripheral retina with retinal blood vessels obscured by pigmented cells surrounding periodic acid-Schiff-positive deposits. Peripheral retinal pigment epithelial cells showed multilayering and pigmentation, with a thickened basal lamina. By electron microscopy, the peripheral retinal vessel endothelium was replaced by an arrangement of morphologically polarized pigmented cells of presumed retinal pigment epithelial origin oriented with their basal surfaces toward a fibrillar matrix occupying the vessel lumen. The similarity of the findings in this young patient to those of an aged patient described previously suggest that autosomal dominant vitreoretinochoroidopathy is an early-onset dystrophy of the peripheral retina with minimal subsequent progression, characterized by a retinal pigment epithelial response that includes marked intraretinal migration and extracellular matrix deposition.