HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA

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.