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Histopathologic and immunohistochemical study of dominant cone degeneration
K To1, M Adamian, F A Jakobiec
1Berman-Gund Laboratory for the Study of Retinal Degenerations, and Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
Purpose:
To report the histopathologic and immunohistochemical findings in autosomal dominant cone degeneration.
Methods:
The autopsy eyes of a 75-year-old man with autosomal dominant cone degeneration were studied with both light and electron microscopy. In addition, immunofluorescent studies using antibodies to cone opsins and cone alpha transducin were performed.
Results:
Histopathologic examination of the fovea disclosed loss of photoreceptors and attenuated retinal pigment epithelium. Reduced numbers of cones could be seen in the parafovea, and only occasional cones were visible in the periphery; rods were preserved in the periphery.
Conclusion:
The histopathologic and immunohistochemical findings in this case of dominantly inherited cone degeneration correlate well with the loss of cone function and preservation of normal or nearly normal rod function upon clinical examination. This condition affects red, green, and blue cones.