Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study
E. I. Traboulsi, I. H. Maumenee, W. R. Green, M. L. Freimer and H. Moser
Eye Pathology Laboratory, Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD 21205.
The ocular histopathologic and electron microscopic findings were
determined in eyes obtained at autopsy from twins with dominant
olivopontocerebellar atrophy (OPCA) and retinal degeneration (OPCA type
III). On light microscopy, a retinal degeneration that involved primarily
the photoreceptor layer was present and appeared to start in the macular
area and spread to involve the peripheral fundus. The retinal pigment
epithelium was variably hypopigmented and hyperpigmented. On electron
microscopy, osmiophilic, multimembranous, and complex lipofuscin inclusions
were present in conjunctival cells, keratocytes, lens epithelium, iris and
ciliary body fibrocytes, occasional outer retinal cells, and retinal
pigment epithelial cells. The twins' father and an older sister were also
affected and had classic neurologic and ophthalmologic abnormalities. The
similarities were noted between the clinical and ultrastructural findings
between OPCA type III and the neuronal ceroid lipofuscinoses.