Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.
OBJECTIVE
To clarify the pathogenesis of choroideremia.


METHODS
Human tissue study. TISSUES: Eyes of an 88-year-old symptomatic female carrier of choroideremia (CHM) and six normal, age-matched donors.


METHODS
The eyes were processed for histopathologic examination, including immunocytochemistry with an antibody against the CHM gene product, REP-1, and retinal cell-specific markers.


RESULTS
The CHM carrier retina showed patchy degeneration, but the photoreceptor and retinal pigment epithelium (RPE) loss appeared to be independent. The choriocapillaris was normal except where retinal areas were severely degenerate. The CHM gene product, REP-1, was localized to the cytoplasm of rods but not cones.


CONCLUSIONS
It has generally been considered that photoreceptor degeneration in CHM is secondary to loss of the choriocapillaris or RPE. This study suggests that the rod photoreceptors are a primary site of disease in CHM.
Syed
N
N
Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA.
Smith
J E
JE
John
S K
SK
Seabra
M C
MC
Aguirre
G D
GD
Milam
A H
AH
D048868:Adaptor Proteins, Signal Transducing; D000368:Aged; D000369:Aged, 80 and over; D019883:Alkyl and Aryl Transferases; D000911:Antibodies, Monoclonal; D015415:Biomarkers / Q000032:analysis; D015794:Choroideremia / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006579:Heterozygote; D006801:Humans; D008297:Male; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000473:pathology*; D010857:Pigment Epithelium of Eye / Q000378:metabolism / Q000473:pathology*; D017299:Rod Opsins / Q000378:metabolism; D020691:rab GTP-Binding Proteins / Q000378:metabolism
D048868:Adaptor Proteins, Signal Transducing; D000911:Antibodies, Monoclonal; D015415:Biomarkers; C081787:CHM protein, human; D017299:Rod Opsins; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins