HISTOPATHOLOGIC STUDY OF AUTOSOMAL-DOMINANT VITREORETINOCHOROIDOPATHYIN A 26-YEAR-OLD WOMAN

The clinicopathologic findings were obtained from enucleated eyes, obt ained post mortem, of a 26-year-old woman with autosomal dominant vitr eoretinochoroidopathy. Light microscopy demonstrated atrophic, disorga nized peripheral retina with retinal blood vessels obscured by pigment ed cells surrounding periodic acid-Schiff-positive deposits. Periphera l retinal pigment epithelial cells showed multilayering and pigmentati on, with a thickened basal lamina. By electron microscopy, the periphe ral retinal vessel endothelium was replaced by an arrangement of morph ologically polarized pigmented cells of presumed retinal pigment epith elial origin oriented with their basal surfaces toward a fibrillar mat rix occupying the vessel lumen. The similarity of the findings in this young patient to those of an aged patient described previously sugges t 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.