Foveomacular vitelliform dystrophy, adult type. A clinicopathologic study including electron microscopic observations

Foveomacular vitelliform dystrophy, adult type (FVDAT), is a dystrophy of the retinal pigment epithelium (RPE) characterized in part by autosomal dominant inheritance, midlife onset, mild visual loss, and various patterns of foveal yellow deposits located at the level of the pigment epithelium. Detailed pathologic studies of two postmortem eyes from a 61-year-old woman with documented FVDAT disclosed striking abnormalities involving mainly the foveal RPE and overlying photoreceptors. By light microscopy, marked focal atrophy of the pigment epithelial cells in the foveolar area was bordered by hypertrophic RPE. Interposed between the atrophic RPE and Bruch's membrane were scattered eosinophilic, fusiform collagenous plaques. The sensory retina overlying the deranged RPE displayed marked atrophy of the outer nuclear layer with loss of photoreceptor inner and outer segments. Pigment-laden macrophages containing periodic acid-Schiff-positive material had migrated into the atrophic, outer sensory retina. Ultraviolet fluorescent microscopy demonstrated massive accumulation of lipofuscin pigment within the macular RPE as well as within macrophages in the atrophic outer retina. By scanning electron microscopy, a confluent area of flattened, atrophic retinal pigment epithelial cells was rimmed by taller, hypertrophic RPE cells. By transmission electron microscopy, the pigment epithelial cells contained myriad lipofuscin granules. Bruch's membrane and the intercapillary pillars were slightly thickened and the choriocapillaris was patent. The possible interrelationships between FVDAT and the other pattern dystrophies of the RPE are discussed.