Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys.
OBJECTIVE
To evaluate the retina in autopsy eyes from patients over age 60 with autosomal dominant retinitis pigmentosa and a mutation in the RP13 gene (designated as PRPC8, Arg2310Gly), rhodopsin Pro23His, rhodopsin Cys110Arg, or rhodopsin Glu181Lys.


METHODS
Histologic study of the retina.


METHODS
All eyes were prepared for electron microscopy within 12 hours after death.


RESULTS
All eyes showed loss of rod photoreceptors. Remaining cones showed perinuclear membranous swirls, inclusion bodies in the inner segments, and shortened or absent outer segments despite causation by various gene defects.


CONCLUSIONS
The comparable histologic findings in these four cases suggest a final common pathway leading to photoreceptor cell death in these dominant forms of retinitis pigmentosa.
To
King
K
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA.
Adamian
Michael
M
Berson
Eliot L
EL
D000368:Aged; D000369:Aged, 80 and over; D002352:Carrier Proteins / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D020419:Photoreceptor Cells, Vertebrate / Q000648:ultrastructure*; D016601:RNA-Binding Proteins; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology*; D012243:Rhodopsin / Q000235:genetics*
D002352:Carrier Proteins; C115374:PRPF8 protein, human; D016601:RNA-Binding Proteins; D012243:Rhodopsin