Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene.
OBJECTIVE
We investigated whether opsin mislocalization occurs in photoreceptors in a female carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the retinitis pigmentosa GTPase regulator gene (RPGR).


METHODS
Histologic findings in autopsy eyes from a carrier were compared with those from a normal female.


METHODS
Frozen retinal sections from the periphery of one eye of the carrier and the normal were stained with antibodies against either human red or green opsins, blue cone opsin, or rhodopsin and labeled with fluorochrome conjugated secondary antibodies. Cell nuclei were counterstained with Hoechst dye. Fellow eyes were evaluated with light microscopy.


RESULTS
Fluorescent labeling showed mislocalized cone and rod opsins in photoreceptor cells only in the carrier. The carrier also showed some loss of photoreceptor nuclei.


CONCLUSIONS
A defect in trafficking of opsins to outer segments exists in a carrier with the RPGR Gly436Asp mutation.
Adamian
Michael
M
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
Pawlyk
Basil S
BS
Hong
Dong-Hyun
DH
Berson
Eliot L
EL
D000368:Aged; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000378:metabolism*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism*; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000378:metabolism*; D017299:Rod Opsins / Q000378:metabolism*
D005136:Eye Proteins; D020662:Guanine Nucleotide Exchange Factors; C099929:RPGR protein, human; D017299:Rod Opsins