title: Histopathologic and immunohistochemical study of an autopsy eye with X-linked cone degeneration.
abstract: We performed a histopathologic and immunohistochemical study of eyes obtained at autopsy of an 84-year-old man from a family with X-linked cone degeneration in which affected members have a 6.5-kilobase deletion in the red cone pigment gene. At his most recent ocular examination, at age 71 years, this patient had had a visual acuity of 20/200 OU, fundus changes suggestive of macular degeneration, borderline-normal full-field rod electroretinograms, and profoundly reduced full-field cone electroretinograms. Histopathologic examination demonstrated marked loss of cone and rod photoreceptors and the retinal pigment epithelium in the central macula. The peripheral cone population was reduced, while the peripheral rod population was relatively preserved. Immunohistochemical examination with an antibody to both red and green cone opsin and an antibody to blue cone opsin disclosed a prominent loss of the red and green cone population and preservation of the blue cone population. These findings show that a defect in the red cone pigment gene can result in extensive degeneration of the red and green cone population across the retina.
authors.affiliation: Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
authors.forename: K W
authors.initials: KW
authors.lastname: To
authors.forename: M
authors.initials: M
authors.lastname: Adamian
authors.forename: F A
authors.initials: FA
authors.lastname: Jakobiec
authors.forename: E L
authors.initials: EL
authors.lastname: Berson
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004596:Electroretinography; D019084:Fluorescent Antibody Technique, Indirect; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D012160:Retina / Q000378:metabolism / Q000473:pathology; 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 / Q000235:genetics / Q000378:metabolism; D014792:Visual Acuity; D014960:X Chromosome / Q000235:genetics / Q000473:pathology*
chemical_list: D017299:Rod Opsins; C095855:long-wavelength opsin; C095854:middle-wavelength opsin; C095853:short-wavelength opsin