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Retinal vessel oximetry in children with inherited retinal diseases
Maria Della Volpe Waizel1,2, Hendrik P N Scholl1,2, Christophe Valmaggia1,3
1Department of Ophthalmology, University of Basel, Basel, Switzerland.
Insights
Retinal vessel oximetry reveals early metabolic changes in children with inherited retinal diseases (IRDs). Rod-cone dystrophy (RCD) cases showed the most significant metabolic alterations, suggesting RO
Area of Science:
- Ophthalmology
- Medical Diagnostics
- Retinal Imaging
Background:
- Inherited retinal diseases (IRDs) are associated with altered metabolic function.
- Retinal vessel oximetry (RO) is a technique used to assess metabolic changes in the retina.
Purpose of the Study:
- To investigate RO parameters in children with IRDs and presumed IRD carriers (pIRDc).
- To compare RO parameters between children with IRDs, pIRDc, and healthy controls.
Main Methods:
- A cross-sectional cohort study included 142 eyes from 71 Caucasian subjects (40 IRDs, 26 pIRDc, 76 controls).
- Retinal oxygen saturation (arteriolar A-SO2, venular V-SO2) and arteriovenous difference (A-V SO2) were measured using the Retinal Vessel Analyser.
- Statistical analysis employed anova-based linear mixed-effects models.
Main Results:
- Children with IRDs exhibited significantly increased A-SO2 and A-V SO2 compared to controls.
- Rod-cone dystrophy (RCD) subgroup showed elevated A-SO2 and V-SO2, and decreased A-V SO2 compared to controls, pIRDc, CRD, and IMD.
- Cone-rod dystrophies (CRD) and inherited macular dystrophies (IMD) showed lower A-V SO2 than RCD.
Conclusions:
- Children with IRDs demonstrate early metabolic alterations detectable by RO.
- RO may aid in early screening for IRDs in children.
- RO can help differentiate between various IRD subtypes, particularly RCD.
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.
