Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys.
OBJECTIVE
To compare histologic findings in an autopsy eye of an 84-year-old man with advanced retinitis pigmentosa and rhodopsin, Glu181Lys, with two cases of autosomal dominant retinitis pigmentosa (one with rhodopsin, Pro23His, and one with rhodopsin, Cys110Arg) and with a normal control, all of comparable age.


METHODS
All eyes were prepared for light and electron microscopy within 6 hours after death.


RESULTS
Extensive photoreceptor degeneration was revealed in the eyes with retinitis pigmentosa. Some macular cones showed membranous swirls only in the eye with rhodopsin, Glu181Lys.


CONCLUSIONS
The retinal degeneration caused by rhodopsin, Glu181Lys, can feature membranous swirls in the inner segments of cones in the macula. These swirls have not been reported in other cases of dominant retinitis pigmentosa studied so far, and their pathogenesis remains to be defined.
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Berman-Gund Laboratory for the Study of Retinal Degenerations and the Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Adamian
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Dryja
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Berson
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D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001344:Autopsy; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000648:ultrastructure*; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000473:pathology*; D012243:Rhodopsin / Q000235:genetics*
D012243:Rhodopsin