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Updated: Oct 29, 2025

Determination of Mitochondrial Respiration and Glycolysis in Ex Vivo Retinal Tissue Samples

Determination of Mitochondrial Respiration and Glycolysis in Ex Vivo Retinal Tissue Samples

Published on: August 4, 2021

Mitochondrial Retinopathy.

Johannes Birtel¹, Christina von Landenberg², Martin Gliem³

¹Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Department of Ophthalmology, University Hospital Bonn, Bonn, Germany; Center for Rare Diseases Bonn (ZSEB), University Hospital Bonn, Bonn, Germany.

Ophthalmology. Retina

|July 14, 2021

Summary

This summary is machine-generated.

Identifying distinct retinal phenotypes in mitochondrial disease aids diagnosis. These characteristic features can help detect mitochondrial retinopathy, even with mild systemic symptoms.

Keywords:

Autofluorescence Genetics Mitochondrial disease OCT Retinal imaging

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Area of Science:

Ophthalmology
Genetics
Neurology

Background:

Mitochondrial diseases are a group of inherited disorders affecting cellular energy production.
Retinopathy is a common but often overlooked manifestation of mitochondrial disease.
Early diagnosis of mitochondrial disease is crucial for management and genetic counseling.

Purpose of the Study:

To characterize the retinal phenotype in patients with mitochondrial disease.
To correlate retinal findings with genetic and systemic manifestations.
To assess the utility of retinal examination in diagnosing mitochondrial disease.

Main Methods:

Retrospective case series of 23 patients with retinopathy and mitochondrial disease.
Review of clinical data, retinal imaging, electrophysiology, and genetic testing.
Histologic analysis of muscle biopsy and protein modeling were performed.

Main Results:

Three distinct retinal phenotypes were identified based on imaging: mild pigmentary abnormalities (type 1), multifocal deposits (type 2), and widespread granular alterations (type 3).
Genetic testing revealed mitochondrial DNA deletions and variants in genes including MT-TL1, MT-ATP6, and RRM2B.
Advanced retinopathy correlated with vision loss, while early stages often had good visual acuity.

Conclusions:

Specific retinal phenotypes are associated with different mitochondrial diseases.
Recognizing these retinal features can facilitate the diagnosis of mitochondrial disease, especially in cases with subtle systemic findings.
Retinal examination plays a vital role in the diagnostic workup of suspected mitochondrial disorders.