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Metabolomics of Eye Diseases

1. Introduction

Eye_DiseasesEye diseases are a major public health concern, affecting millions of people worldwide. These diseases can lead to blindness and vision impairment, which can have a significant impact on quality of life. Traditional methods for diagnosing and monitoring eye diseases include clinical examination, imaging studies, and electrophysiological testing. However, these methods are often invasive, expensive, and time-consuming.

Metabolomics is a rapidly emerging field that offers a new approach to the study of eye diseases. Metabolomics is the study of the global metabolite profile of a biological system, which can be used to identify and characterize biomarkers of disease. Metabolomics has several advantages over traditional methods for diagnosing and monitoring eye diseases, including:

Non-invasive: Metabolomics can be performed on a variety of biological samples, including blood, urine, and tears. This makes it a non-invasive and patient-friendly approach to the study of eye diseases.

Comprehensive: Metabolomics can provide a comprehensive overview of the metabolic changes that occur in eye diseases. This information can be used to identify new biomarkers of disease and to better understand the underlying pathophysiology.

Cost-effective: Metabolomics is a relatively cost-effective method for diagnosing and monitoring eye diseases. This makes it a potentially viable option for large-scale population screening.

2. The potential applications of metabolomics in the diagnosis, treatment, and prognosis of eye diseases

2.1 Metabolomics and Disease Progression and Prognosis

Metabolomics studies have identified a number of metabolites that are associated with disease progression and prognosis in eye diseases. For example, elevated levels of certain lipids have been found to be associated with an increased risk of developing AMD. Elevated levels of glucose and its metabolites have been found to be associated with an increased risk of developing diabetic retinopathy. Elevated levels of oxidative stress markers have been found to be associated with an increased risk of developing glaucoma.

These findings suggest that metabolomics can be used to identify patients at high risk of developing complications and to improve the management of eye diseases.

2.2  Metabolomics-Guided Therapy for Eye Diseases

Metabolomics can also be used to guide the treatment of eye diseases. For example, patients with AMD who have elevated levels of certain lipids may benefit from a diet that is low in saturated fat and cholesterol. Patients with diabetic retinopathy who have elevated levels of glucose and its metabolites may benefit from better glycemic control. Patients with glaucoma who have elevated levels of oxidative stress markers may benefit from antioxidant therapy.

Metabolomics-guided therapy is a personalized approach to the treatment of eye diseases that has the potential to improve patient outcomes.

3. Common Eye Disease Metabolomics Study Sample Preparation

The choice of sample type and preparation method depends on the specific research question and the availability of resources. Common sample types used in eye disease metabolomics studies include:

Blood: Blood samples can be collected through venipuncture and provide information about systemic metabolism.

Urine: Urine samples are easy to collect and can provide information about metabolic waste products.

Tears: Tear samples can be collected using Schirmer strips or capillary tubes and can reflect the metabolic profile of the ocular surface.

Aqueous humor: Aqueous humor samples can be collected during anterior chamber paracentesis and provide information about the intraocular environment.

Vitreous humor: Vitreous humor samples can be collected during vitrectomy and provide information about the metabolic profile of the vitreous body.

View metabolomics sample requirements.

4. The challenges and future perspectives of metabolomics research on eye diseases

While metabolomics research holds immense promise for advancing our understanding and treatment of eye diseases, several challenges still need to be addressed:

4.1 Challenges:

Limited tissue accessibility: Studying specific areas within the eye, especially inner retinal layers, can be challenging due to ethical and technical limitations. Non-invasive or minimally invasive sampling methods are needed to access these areas.


Functional validation: Identifying the functional roles of specific metabolites and their interactions with disease pathways requires further research beyond metabolomic profiling. Integrating metabolomics with other omics data (genomics, proteomics) can provide broader insights.


Clinical translation: Translating metabolomics findings into clinically useful applications, such as diagnostic biomarkers or therapeutic targets, requires extensive validation and clinical trials. Addressing regulatory hurdles and cost-effectiveness is also crucial.

4.2 Future perspectives:

Despite these challenges, the future of metabolomics research in eye diseases is bright, thanks to several promising developments:


Advanced analytical techniques: New technologies like single-cell metabolomics and spatial metabolomics offer unprecedented resolution and insight into metabolic changes at the cellular and tissue levels.


Integrated omics approaches: Combining metabolomics with other omics data (genomics, proteomics, transcriptomics) provides a more comprehensive understanding of disease mechanisms and personalized medicine strategies.


Non-invasive sampling methods: Developments in tearomics and microfluidic devices offer potential for non-invasive or minimally invasive access to intraocular fluids, facilitating wider clinical applications.


In conclusion, while challenges remain, the future of metabolomics research in eye diseases is full of promise. By addressing existing hurdles and leveraging new technologies, this field holds the potential to revolutionize our understanding, diagnosis, and treatment of these debilitating conditions.


5. Case study

5.1 Metabolomic Profifiling of Aqueous Humor and Plasma in Primary Open Angle Glaucoma Patients Points Towards Novel Diagnostic and Therapeutic Strategy (DOI: 10.3389/fphar.2021.621146)


Glaucoma is a leading cause of blindness, with limited treatment options for the most common type (POAG).Early diagnosis is crucial, but there are no reliable biomarkers for POAG.


Study approach:

This study investigates metabolic profiles in both aqueous humor and plasma of POAG patients compared to controls.They use advanced techniques to identify differentially expressed metabolites (DEMs).


Key findings:

22 DEMs were identified in aqueous humor and 11 in plasma, potentially serving as biomarkers for POAG.Specific examples include cyclic AMP, 2-methylbenzoic acid, and N-lac-phe.The metabolic profiles suggest altered purine metabolism in POAG patients.



The study identifies novel potential biomarkers for POAG, which could improve diagnosis and treatment.The findings offer new insights into the underlying mechanisms of POAG and suggest potential therapeutic targets.Overall, this study represents a significant step forward in the fight against glaucoma by leveraging metabolomics to identify potential biomarkers and therapeutic strategies.


5.2 Nicotinamide ameliorates energy deficiency and improves retinal function in Cav-1-/- mice (DOI: 10.1111/jnc.15266)



Caveolin-1 (Cav-1) deficiency in mice leads to retinal function deficits, but the mechanism isn't well understood.


Study approach:

This study investigates whether the deficits are due to disrupted energy homeostasis in the retina and if restoring energy balance can improve function.


Key findings:

Cav-1 deficiency disrupts the balance of oxidized lipids (oxylipins) in the retina. Cav-1 deficiency reduces energy consumption and production in the retina by affecting key enzymes and pathways. Supplementation with nicotinamide (NAM) increases Sirt1 expression, improves energy efficiency, and partially restores disrupted oxylipin profiles. NAM administration also significantly improves retinal function as measured by electroretinogram (ERG).



This study shows a link between Cav-1 deficiency, energy imbalance, and retinal dysfunction.Supplementation with NAM appears to be a promising therapeutic strategy for improving retinal function in Cav-1 deficiency.Overall, this research reveals a potential mechanism for Cav-1-related retinal problems and suggests a therapeutic avenue for further exploration.


5.3 Evaluationof the influences of low dose polybrominated diphenyl ethers exposureon human early retinaldevelopment (DOI: 10.1016/j.envint.2022.107187)



Existing evidence suggests that a flame retardant chemical (BDE-47) can damage the retina in animal models, but its impact on human retinal development is unclear due to lack of suitable models.


Study approach:

Developed a human embryonic stem cell-derived retinal organoid (hESC-RO) model to assess BDE-47 toxicity during early retinal development.Exposed hESC-ROs to low-level BDE-47 and observed its effects on retinal structure, cell proliferation, differentiation, and gene expression.


Key findings:

BDE-47 exposure decreased the thickness and area of the neural retina in hESC-ROs in a dose- and time-dependent manner. Low-level exposure caused abnormal cell distributions, disrupted retinal structures, and neural rosette formations. BDE-47 reduced cell proliferation, increased cell death, and altered differentiation patterns. Gene expression analysis revealed changes related to extracellular matrix organization. Long-term exposure (5 weeks) showed significant alterations in purine and glutathione metabolism.



This study demonstrates the detrimental effects of low-level BDE-47 exposure on human retinal development using a novel hESC-RO model. The findings highlight the potential risks of BDE-47 exposure to human health and contribute to understanding its toxicity mechanisms.Overall, this research provides valuable insights into the adverse effects of BDE-47 on human retinal development, emphasizing the need for further investigation and potential preventative measures.

The future of eye care gleams with the power of metabolomics. Let's illuminate possibilities together. Discuss your research and explore how our innovative metabolomics and multiomics services can empower you. Subscribe for the latest advancements.


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