Histopathologic study of autosomal dominant vitreoretinochoroidopathy in a 26-year-old woman
D. P. Han, J. M. Burke, J. R. Blair and K. B. Simons
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, USA.
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.