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Ophthalmology. 1986 Nov;93(11):1443-51.

Cone-rod dystrophy. A clinical and histopathologic report.


Clinical, histopathologic, and electron microscopic findings in two postmortem eyes from a 29-year-old black man and the clinical and electrophysiologic findings of his 33-year-old sister, both of whom had bilateral atrophic macular lesions, confirmed the diagnosis of cone-rod dystrophy in these two patients. Light microscopy revealed a loss of photoreceptor cells primarily in the peripheral retina and macula, with relative preservation of both rod and cone cells in the equatorial area. Electron microscopy showed abundant lipofuscin-like granules aggregated in the basal portion of the retinal pigment epithelial cells. In the macular area, many retinal pigment epithelial cells were atrophic. The phagocytic capacity of the retinal pigment epithelium appeared to remain intact. The accumulation of lipofuscin-like granules in the retinal pigment epithelium may be one of the significant pathologic changes of this dystrophy.

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