Histopathologic and immunohistochemical study of dominant cone degeneration.
OBJECTIVE
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.


CONCLUSIONS
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.
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Berman-Gund Laboratory for the Study of Retinal Degenerations, and Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
Adamian
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M
Jakobiec
F A
FA
Berson
E L
EL
D000368:Aged; D019084:Fluorescent Antibody Technique, Indirect; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D017948:Retinal Rod Photoreceptor Cells / Q000473:pathology; D017299:Rod Opsins / Q000378:metabolism; D015293:Transducin / Q000378:metabolism
D017299:Rod Opsins; D015293:Transducin