Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
N Syed, JE Smith, SK John, MC Seabra, GD Aguirre… - Ophthalmology, 2001 - Elsevier
N Syed, JE Smith, SK John, MC Seabra, GD Aguirre, AH Milam
Ophthalmology, 2001•ElsevierPURPOSE: To clarify the pathogenesis of choroideremia. STUDY DESIGN: 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 …
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 …
PURPOSE
To clarify the pathogenesis of choroideremia.
STUDY DESIGN
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.
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