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HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA.
Francesco Romano1, Alessandro Arrigo1, Robert E MacLaren2,3
1Department of Ophthalmology, Scientific Institute San Raffaele, Vita-Salute University, Milan, Italy.
Retina (Philadelphia, Pa.)
|December 5, 2019
Summary
Hyperreflective foci (HF) are more numerous in choroideremia (CHM) eyes, particularly in the choroid near the atrophy. This finding may indicate HF as a biomarker for CHM activity or severity.
Area of Science:
- Ophthalmology
- Medical Imaging
- Genetics
Background:
- Choroideremia (CHM) is a rare X-linked genetic disorder.
- It leads to progressive vision loss due to degeneration of the retina and choroid.
- Understanding biomarkers for CHM progression is crucial.
Purpose of the Study:
- To quantify and map hyperreflective foci (HF) in choroideremia (CHM) patients.
- To compare HF distribution in CHM eyes versus healthy controls.
- To explore the relationship between HF and disease extent in CHM.
Main Methods:
- Observational, cross-sectional study of CHM patients and controls.
- Spectral domain optical coherence tomography (SD-OCT) was used for HF assessment.
- Blue-light autofluorescence (BL-FAF) measured the central islet area.
Main Results:
- CHM eyes showed significantly more HF than controls, especially in the choroid.
- HF were predominantly located in the choroid (59-87%) at the pathologic border and fovea.
- Choroidal HF correlated inversely with the size of the preserved central islet.
Conclusions:
- Hyperreflective foci may serve as a biomarker for CHM activity and severity.
- HF could be linked to macrophage activation or retinal pigment epithelium degeneration.
- Further research is needed to validate HF as a clinical biomarker in CHM.
