Francesco Romano1, Alessandro Arrigo1, Robert E MacLaren2,3, Peter Charbel Issa2,3, Johannes Birtel4,5, Francesco Bandello1, Maurizio Battaglia Parodi1. 1. Department of Ophthalmology, Scientific Institute San Raffaele, Vita-Salute University, Milan, Italy. 2. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom. 3. Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom. 4. Department of Ophthalmology, University of Bonn, Bonn, Germany; and. 5. Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany.
Abstract
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.
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 CHMpatients, 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.
Authors: Marco Nassisi; Vasily M Smirnov; Cyntia Solis Hernandez; Saddek Mohand-Saïd; Christel Condroyer; Aline Antonio; Laura Kühlewein; Melanie Kempf; Susanne Kohl; Bernd Wissinger; Fadi Nasser; Sara D Ragi; Nan-Kai Wang; Janet R Sparrow; Vivienne C Greenstein; Stylianos Michalakis; Omar A Mahroo; Rola Ba-Abbad; Michel Michaelides; Andrew R Webster; Simona Degli Esposti; Brooke Saffren; Jenina Capasso; Alex Levin; William W Hauswirth; Claire-Marie Dhaenens; Sabine Defoort-Dhellemmes; Stephen H Tsang; Eberhart Zrenner; Jose-Alain Sahel; Simon M Petersen-Jones; Christina Zeitz; Isabelle Audo Journal: Hum Mutat Date: 2021-05-16 Impact factor: 4.700