HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA
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HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA. / Romano, Francesco; Arrigo, Alessandro; MacLaren, Robert E; Charbel Issa, Peter; Birtel, Johannes; Bandello, Francesco; Battaglia Parodi, Maurizio.
in: RETINA-J RET VIT DIS, Jahrgang 40, Nr. 8, 08.2020, S. 1634-1640.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA
AU - Romano, Francesco
AU - Arrigo, Alessandro
AU - MacLaren, Robert E
AU - Charbel Issa, Peter
AU - Birtel, Johannes
AU - Bandello, Francesco
AU - Battaglia Parodi, Maurizio
PY - 2020/8
Y1 - 2020/8
N2 - PURPOSE: To assess hyperreflective foci (HF) number and distribution in choroideremia (CHM) using spectral domain optical coherence tomography.METHODS: Observational, cross-sectional case series. Consecutive patients and matched controls (20 eyes each) underwent best-corrected visual acuity measurement, fundoscopy, blue-light autofluorescence (BL-FAF) and spectral domain optical coherence tomography. Hyperreflective foci were assessed on a horizontal spectral domain optical coherence tomography scan, in the 500-µm area centered on the umbo, and in the 500-μm-wide areas internal (preserved border) and external (pathologic border) to the chorioretinal atrophy of CHM patients, and in the parafovea of controls. Hyperreflective foci were subclassified as retinal or choroidal. The spared central islet was measured on BL-FAF. Primary outcome was HF quantification in CHM. Secondary outcomes included their relationships with atrophy extent.RESULTS: Choroideremia eyes disclosed a significantly higher HF number across the pathologic border and in the fovea when compared with controls; in particular, these HF were primarily located in the choroid (59-87%). Moreover, choroidal HF in the pathologic border inversely correlated with the area of the preserved central islet.CONCLUSION: Hyperreflective foci might turn out to be a potential biomarker of CHM activity or severity. In this regard, we hypothesize that HF may be related to macrophages activation or progressive retinal pigment epithelium degeneration.
AB - PURPOSE: To assess hyperreflective foci (HF) number and distribution in choroideremia (CHM) using spectral domain optical coherence tomography.METHODS: Observational, cross-sectional case series. Consecutive patients and matched controls (20 eyes each) underwent best-corrected visual acuity measurement, fundoscopy, blue-light autofluorescence (BL-FAF) and spectral domain optical coherence tomography. Hyperreflective foci were assessed on a horizontal spectral domain optical coherence tomography scan, in the 500-µm area centered on the umbo, and in the 500-μm-wide areas internal (preserved border) and external (pathologic border) to the chorioretinal atrophy of CHM patients, and in the parafovea of controls. Hyperreflective foci were subclassified as retinal or choroidal. The spared central islet was measured on BL-FAF. Primary outcome was HF quantification in CHM. Secondary outcomes included their relationships with atrophy extent.RESULTS: Choroideremia eyes disclosed a significantly higher HF number across the pathologic border and in the fovea when compared with controls; in particular, these HF were primarily located in the choroid (59-87%). Moreover, choroidal HF in the pathologic border inversely correlated with the area of the preserved central islet.CONCLUSION: Hyperreflective foci might turn out to be a potential biomarker of CHM activity or severity. In this regard, we hypothesize that HF may be related to macrophages activation or progressive retinal pigment epithelium degeneration.
KW - Adaptor Proteins, Signal Transducing/genetics
KW - Adult
KW - Biomarkers
KW - Choroid/pathology
KW - Choroideremia/diagnosis
KW - Cross-Sectional Studies
KW - Humans
KW - Male
KW - Middle Aged
KW - Tomography, Optical Coherence
KW - Visual Acuity/physiology
U2 - 10.1097/IAE.0000000000002645
DO - 10.1097/IAE.0000000000002645
M3 - SCORING: Journal article
C2 - 31800458
VL - 40
SP - 1634
EP - 1640
JO - RETINA-J RET VIT DIS
JF - RETINA-J RET VIT DIS
SN - 0275-004X
IS - 8
ER -