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To identify biomarkers of common eye diseases based on single-cell sequencing technologies using PBMC samples. These diseases include uveitis, diabetic retinopathy, age-related macular degeneration and polypoid choroidal vasculopathy. Our study may provide new insight into the underlying mechanisms, and reveal novel predictors and intervention targets for the diagnosis, prognosis and treatment of these diseases.
The pathogenesis of common eye diseases such as uveitis (including Behcet's disease (BD) and Vogt-Koyanagi-Harada disease (VKH)), diabetic retinopathy (DR), age-related macular degeneration (AMD) and polypoid choroidal vasculopathy (PCV) remains unknown. Although immunosuppressants, anti-vascular endothelial growth factor (VEGF) agents, and pars plana vitrectomy (PPV) have been widely used for treatment, the current therapeutic options are limited. In addition, there is a lack of biomarkers to indicate the prognosis and treatment response of these diseases. The aim of this study is to identify biomarkers and to provide a new target for individualized diagnosis and treatment of common eye diseases based on single cell sequencing technology.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with VKH, BD, DR, AMD, or PCV | Collection of blood samples and clinical information from patients with VKH, BD, DR, AMD, or PCV |
| |
| Healthy subjects | Collection of blood samples and clinical information |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Collection of blood samples | Other | Collection of blood samples for DNA extraction and genetic characterization, and for identification of peripheral blood biomarkers using single-cell transcriptomics and mass cytometry. |
| Measure | Description | Time Frame |
|---|---|---|
| Peripheral blood mononuclear cell (PBMC) signatures | PBMC signatures, derived from single cell sequencing and mass spectrometry, will be compared for the same patient before and after treatment, among patients of different symptoms and severity measures, and also between patients and healthy subjects. Upon these comparisons, biomarkers will be established for the patient population. | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| PBMC cell types frequencies | PBMC cell types frequencies, derived from single cell sequencing and mass spectrometry, will be compared for the same patient before and after treatment, among patients of different symptoms and severity measures, and also between patients and healthy subjects. | 1 year |
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Inclusion Criteria for patients:
Exclusion Criteria for patients with retinal diseases:
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Healthy subjects and patients who are diagnosed as DR, VKH, BD, AMD, or PCV will be enrolled.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yingfeng Zheng | Contact | +8613922286455 | zhyfeng@mail.sysu.edu.cn | |
| Yizhi Liu | Contact |
| Name | Affiliation | Role |
|---|---|---|
| Yingfeng Zheng | Zhognshan Ophthalmic Center, Sun Yat-sen University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Zhognshan Ophthalmic Center, Sun Yat-sen University | Recruiting | Guangzhou | Guangdong | 510000 | China |
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| ID | Term |
|---|---|
| D014605 | Uveitis |
| D003930 | Diabetic Retinopathy |
| D008268 | Macular Degeneration |
| D000092342 | Polypoidal Choroidal Vasculopathy |
| D014607 | Uveomeningoencephalitic Syndrome |
| D001528 | Behcet Syndrome |
| ID | Term |
|---|---|
| D014603 | Uveal Diseases |
| D005128 | Eye Diseases |
| D012164 | Retinal Diseases |
| D003925 | Diabetic Angiopathies |
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Blood
| D014652 |
| Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D048909 | Diabetes Complications |
| D003920 | Diabetes Mellitus |
| D004700 | Endocrine System Diseases |
| D012162 | Retinal Degeneration |
| D020256 | Choroidal Neovascularization |
| D015862 | Choroid Diseases |
| D009389 | Neovascularization, Pathologic |
| D008679 | Metaplasia |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D020274 | Autoimmune Diseases of the Nervous System |
| D009422 | Nervous System Diseases |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D009059 | Mouth Diseases |
| D009057 | Stomatognathic Diseases |
| D014606 | Uveitis, Anterior |
| D015864 | Panuveitis |
| D014657 | Vasculitis |
| D056660 | Hereditary Autoinflammatory Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D017445 | Skin Diseases, Vascular |