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Related Concept Videos

Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
Diabetic Nephropathy01:28

Diabetic Nephropathy

Definition Diabetic nephropathy is a chronic kidney complication that results from prolonged hyperglycemia.Prevalence It is the most common cause of chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide, affecting up to half of individuals with diabetes.Pathophysiology • Sustained hyperglycemia triggers multiple hemodynamic and metabolic changes in the kidney. • Early in the disease, increased renal blood flow and glomerular hyperfiltration occur due to afferent arteriolar...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...

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Related Experiment Video

Updated: May 18, 2026

An Assay to Detect Protection of the Retinal Vasculature from Diabetes-Related Death in Mice
04:36

An Assay to Detect Protection of the Retinal Vasculature from Diabetes-Related Death in Mice

Published on: January 12, 2024

Genetics and diabetic retinopathy.

Stephen G Schwartz1, Milam A Brantley, Harry W Flynn

  • 1Bascom Palmer Eye Institute at Naples, 311 9th Street North #100, Naples, FL 34102, USA. sschwartz2@med.miami.edu

Current Diabetes Reviews
|September 7, 2012
PubMed
Summary

Genetic factors may influence diabetic retinopathy, but definitive links remain unclear. Further research is needed to clarify the role of specific genes in diabetic eye disease progression.

Area of Science:

  • Ophthalmology
  • Genetics
  • Endocrinology

Background:

  • Diabetic retinopathy (DR) exhibits significant patient variability despite similar risk factors, suggesting a genetic component.
  • Previous linkage studies implicated chromosomes 1, 3, and 12 in DR development.
  • Key candidate genes, including those for vascular endothelial growth factor (VEGF), aldose reductase, and the receptor for advanced glycation end products (RAGE), have been investigated.

Purpose of the Study:

  • To explore the potential genetic influences on the development and progression of diabetic retinopathy.
  • To review existing evidence for genetic associations with diabetic retinopathy.

Main Methods:

  • Review of linkage studies identifying chromosomal regions associated with diabetic retinopathy.
  • Analysis of studies investigating specific candidate genes implicated in diabetic retinopathy pathogenesis.

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  • Synthesis of findings from multiple international research series.
  • Main Results:

    • While some studies show statistically significant associations for specific genes (e.g., VEGF, aldose reductase, RAGE) in various populations, no definitive genetic links to diabetic retinopathy have been consistently reported.
    • Inconsistencies in findings may stem from small sample sizes, varied study designs, and genetic heterogeneity among different populations.

    Conclusions:

    • The genetic basis of diabetic retinopathy is complex and not yet fully elucidated.
    • Further large-scale, well-designed studies are required to establish consistent genetic associations and understand their role in disease progression.
    • Clarifying genetic factors could lead to personalized risk assessment and targeted therapies for diabetic retinopathy.