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June 1988

Olivopontocerebellar Atrophy With Retinal DegenerationA Clinical and Ocular Histopathologic Study

Author Affiliations

From the Eye Pathology Laboratory, The Wilmer Eye Institute (Drs Traboulsi, Maumenee, and Green); Departments of Pathology (Dr Green) and Neurology (Dr Freimer), and John F. Kennedy Institute (Dr Moser), The Johns Hopkins Medical Institutions, Baltimore; and the Center for Sight, Georgetown University Medical Center, Washington, DC (Dr Traboulsi).

Arch Ophthalmol. 1988;106(6):801-806. doi:10.1001/archopht.1988.01060130871043

• 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.