Retinal vessel oximetry in children with inherited retinal diseases

• Published in: Acta ophthalmologica (Oxford, England) Vol. 99; no. 1; pp. 52 - 60
• Main Authors: della Volpe Waizel, Maria, Scholl, Hendrik P. N., Valmaggia, Christophe, Todorova, Margarita G.
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.02.2021
• Subjects: Arterioles; Children; cone–rod dystrophy; Dystrophy; Eye; inherited macular dystrophy; inherited retinal diseases; Metabolism; Oxygen; oxygen saturation; Retina; retinal vessel diameter; retinal vessel oximetry; rod–cone dystrophy; screening; inherited retinal diseases; screening; children; retinal vessel oximetry; rod-cone dystrophy; cone-rod dystrophy; oxygen saturation; retinal vessel diameter; inherited macular dystrophy
• ISSN: 1755-375X; 1755-3768; 1755-3768
• DOI: 10.1111/aos.14466

Background Retinal vessel oximetry (RO) has been used to show altered metabolic function in patients with inherited retinal diseases (IRDs). The aim of this study was to investigate RO parameters of children with IRDs and presumed IRD carriers (pIRDc) and to compare them to controls. Methods In this cross‐sectional cohort study, 142 eyes from 71 Caucasian subjects were included: 40 eyes with IRDs, 26 eyes with pIRDc and 76 control eyes. The oxygen saturation was measured with the Retinal Vessel Analyser (IMEDOS Systems UG, Jena, Germany). Mean oxygen saturations in the peripapillary retinal arterioles (A‐SO2; %) and venules (V‐SO2; %) were estimated, and their difference (A‐V SO2; %) was calculated. In addition, we evaluated the mean diameter in all major retinal arterioles (D‐A; μm) and venules (D‐V; μm). anova‐based linear mixed‐effects models were calculated with SPSS®. Results In general, children suffering from IRDs differed from controls when the A‐SO2 and A‐V SO2 were taken into account: both the A‐SO2 and the A‐V SO2 were significantly increased (p = 0.012). In subgroup analyses, children suffering from rod–cone dystrophy (RCD) presented an A‐SO2 increase (99.12 ± 8.24%) when compared to controls (91.33 ± 10.34%, p = 0.014) and pIRDc (92.37 ± 6.57%, p = 0.065). For V‐SO2 significant changes in RCD (67.42 ± 9.19%) were found in comparison with controls (58.24 ± 11.74%, p < 0.041), pIRDc (56.67 ± 7.16%, p = 0.007), cone–rod dystrophies (CRD, 52.17 ± 5.32%, p < 0.001) and inherited macular dystrophies (IMD, 55.74 ± 6.96%, p = 0.004), In addition, A‐V SO2 was decreased in RCD (31.69 ± 3.92%) when measured against CRD (41.9 ± 8.87%, p = 0.017) or IMD (39.52 ± 8.95%, p = 0.059). Conclusion In general, we found that children with IRDs presented early metabolic changes. Within IRDs, children with RCD showed more affected metabolic changes. Thus, RO may support early screening to rule out IRDs in children, and more precisely may help to differentiate those suffering from RCD.