Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia

N Syed; J E Smith; S K John; M C Seabra; G D Aguirre; A H Milam

doi:10.1016/S0161-6420(00)00643-6

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Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia

Journal article

Peer reviewed

Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia

N Syed, J E Smith, S K John, M C Seabra, G D Aguirre and A H Milam

Ophthalmology (Rochester, Minn.), Vol.108(4), pp.711-720

04/2001

DOI: 10.1016/S0161-6420(00)00643-6

PMID: 11297488

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Abstract

To clarify the pathogenesis of choroideremia. Human tissue study. TISSUES: Eyes of an 88-year-old symptomatic female carrier of choroideremia (CHM) and six normal, age-matched donors. The eyes were processed for histopathologic examination, including immunocytochemistry with an antibody against the CHM gene product, REP-1, and retinal cell-specific markers. 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. 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.

rab GTP-Binding Proteins - metabolism

Choroideremia - metabolism

Humans

Middle Aged

Biomarkers - analysis

Male

Choroideremia - pathology

Antibodies, Monoclonal

Choroideremia - genetics

Pigment Epithelium of Eye - metabolism

Adaptor Proteins, Signal Transducing

Rod Opsins - metabolism

Aged, 80 and over

Alkyl and Aryl Transferases

Pigment Epithelium of Eye - pathology

Female

Heterozygote

Aged

Photoreceptor Cells, Vertebrate - metabolism

Photoreceptor Cells, Vertebrate - pathology

Fluorescent Antibody Technique, Indirect

Microscopy, Fluorescence

Details

Title: Subtitle: Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
Creators: N Syed - Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA
J E Smith
S K John - University of Pennsylvania
M C Seabra
G D Aguirre
A H Milam
Resource Type: Journal article
Publication Details: Ophthalmology (Rochester, Minn.), Vol.108(4), pp.711-720
Publisher: United States
DOI: 10.1016/S0161-6420(00)00643-6
PMID: 11297488
ISSN: 0161-6420
eISSN: 1549-4713
Grant note: EY-13132 / NEI NIH HHS EY-06855 / NEI NIH HHS
Language: English
Date published: 04/2001
Academic Unit: Pathology; Ophthalmology and Visual Sciences
Record Identifier: 9983979947702771

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