Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Observational Study
. 2025 Feb;263(2):379-385.
doi: 10.1007/s00417-024-06659-8. Epub 2024 Oct 12.

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa

Dominique Prétot #  1   2 , Maria Della Volpe Waizel #  1   3 , Karolina Kaminska  1   4 , Philippe Valmaggia  1   4   5 , Giorgio Placidi  6 , Benedetto Falsini  6 , Fabian N Fries  3   7 , Nóra Szentmáry  3   7 , Carlo Rivolta  1   4   8 , Hendrik P N Scholl  1 , Giacomo Calzetti  9   10   11
Affiliations
Observational Study

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa

Dominique Prétot et al. Graefes Arch Clin Exp Ophthalmol. 2025 Feb.

Abstract

Purpose: To measure the retinal oxygen metabolic function with retinal oximetry (RO) in patients with choroideremia (CHM) and compare these findings with retinitis pigmentosa (RP) patients and controls.

Methods: Prospective observational study including 18 eyes of 9 molecularly confirmed CHM patients (9♂; 40.2 ± 21.2 years (mean ± SD), 77 eyes from 39 patients with RP (15♀ 24♂; 45.6 ± 14.7 years) and 100 eyes from 53 controls (31♀ 22♂; 40.2 ± 13.4 years). Main outcome parameters were the mean arterial (A-SO2; %), venular (V-SO2; %) oxygen saturation, and their difference (A-V SO2; %) recorded with the oxygen saturation tool of the Retinal Vessel Analyzer (IMEDOS Systems UG, Germany). Statistical analyses were performed with linear mixed-effects models.

Results: Eyes suffering from CHM differed significantly from both RP and control eyes, when the retinal oxygen metabolic parameters were taken into account. While RP showed significantly higher A-SO2 and V-SO2 values when compared to controls, CHM showed opposite findings with significantly lower values when compared to both RP and controls (P < 0.001). The A-V SO2, which represents the retinal oxygen metabolic consumption, showed significantly lower values in CHM compared to controls.

Conclusion: The retina in CHM is a relatively hypoxic environment. The decrease in oxygen levels may be due to the profound choroidal degeneration, leading to decreased oxygen flux to the retina. RO measurements may help understand the pathogenesis of CHM and RP. These findings may provide useful details to inform the planning of clinical trials of emerging therapies for CHM.

Key messages: What was known before? Retinal oxygen metabolic function measured with retinal oximetry (RO) shows significant alterations in patients with retinitis pigmentosa.

What this study adds: RO function in choroideremia is significantly altered when compared to controls. Furthermore, RO in choroideremia shows opposing findings within different oxygen metabolic parameters to those that were so far known for retinitis pigmentosa. By providing insights into the retinal oxygen metabolic mechanisms, RO can help understand the underlying pathophysiology in choroideremia.

Keywords: Choroideremia; Inherited retinal diseases; Retinal oximetry; Retinal oxygen metabolic function; Retinitis pigmentosa.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Ethical Approval was provided by Ethics Commission of Central and Northern Switzerland (EKNZ Basel Switzerland) with a positive vote for a prospective observational study (trial number EKNZ BASEC 2020–00122). Informed consent: Written informed consent was obtained from all individual participants included in the study. Conflict of interest: Dr. della Volpe Waizel is member of the Scientific Advisory Board of backlight therapeutics Switzerland. Dr. Valmaggia discloses personal compensation from Heidelberg Engineering and Roche. Dr. Scholl is member of the Scientific Advisory Board of: Boehringer Ingelheim Pharma GmbH & Co; Droia NV; Eluminex Biosciences; Janssen Research & Development, LLC (Johnson & Johnson); Okuvision GmbH; ReVision Therapeutics Inc.; and Saliogen Therapeutics Inc. Dr. Scholl is a consultant of: Alnylam Pharmaceuticals Inc.; Gerson Lehrman Group Inc.; Guidepoint Global, LLC; and Tenpoint Therapeutics. Dr. Scholl is member of the Data Monitoring and Safety Board/Committee of Belite Bio (DRAGON trial, NCT05244304; LBS-008-CT02, NCT05266014), F. Hoffmann-La Roche Ltd (VELODROME trial, NCT04657289; DIAGRID trial, NCT05126966; HUTONG trial), ViGeneron (protocol number VG901-2021-A) and member of the Steering Committee of Novo Nordisk (FOCUS trial; NCT03811561). Individual investigators who participate in the sponsored project(s) are not directly compensated by the sponsor but may receive salary or other support from the institution to support their effort on the project(s).

Figures

Fig. 1
Fig. 1
Example of a vessel map in the left eye of a patient suffering from choroideremia (left side) and a patient with retinitis pigmentosa (right side). Oxygen saturation was measured in all main retinal arterioles and venules within 1.0–1.5 optic disc diameter distance from the optic disc margin
Fig. 2
Fig. 2
Box Plot analysis illustrates the vessel oxygen saturation of the retinal arterioles (red, A-SO2), venules (blue, V-SO2), and their difference (green, A-V SO2). The ordinate shows the vessel oxygen saturation in percents for all three groups shown on the abscissa (choroideremia = chm, control, retinitis pigmentosa = RP). The upper and lower whiskers of the boxplot present the minimum and maximum value, the upper and lower borders of the box represent the 25th and 75th percentile respectively, and the black horizontal bar within the box represents the median value. Data points classified as outliers are marked as circles
See this image and copyright information in PMC

References

    1. Schweitzer D, Thamm E, Hammer M et al (2001) A new method for the measurement of oxygen saturation at the human ocular fundus. Int Ophthalmol 23:347–353 - PubMed
    1. Zabek O, Calzetti G, Prétot D et al (2022) Full-field sensitivity threshold and the relation to the oxygen metabolic retinal function in retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol 260:2517–2527 - PubMed
    1. Meral N, Zabek O, Camenzind Zuche H et al (2022) Metabolic long-term monitoring of transcorneal electrical stimulation in retinitis pigmentosa. Ophthalmic Res 65:52–59 - PubMed
    1. Della Volpe Waizel M, Scholl HPN, Todorova MG (2021) Microvascular and metabolic alterations in retinitis pigmentosa and Stargardt disease. Acta Ophthalmol 99:e1396–e1404 - PubMed
    1. Todorova MG, Scholl HPN, Della Volpe Waizel M (2021) The impact of macular edema on microvascular and metabolic alterations in retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol 259:643–652 - PubMed

Publication types

MeSH terms

LinkOut - more resources