Polypoidal choroidal vasculopathy: clinical features and genetic predisposition.
Shigeru Honda1, Wataru Matsumiya, Akira Negi
1Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
Summary
Polypoidal choroidal vasculopathy (PCV), a form of age-related macular degeneration, presents unique clinical features and treatment responses compared to typical AMD. Recent research highlights genetic factors and optimal therapeutic strategies for PCV.
Area of Science:
- Ophthalmology
- Genetics
- Vascular Biology
Background:
- Polypoidal choroidal vasculopathy (PCV) is considered a distinct phenotype of age-related macular degeneration (AMD).
- PCV exhibits unique clinical manifestations, natural course, and treatment responses that differ from typical neovascular AMD (tAMD).
- Emerging genetic studies suggest variations in disease susceptibility and potential heterogeneity within PCV cases.
Purpose of the Study:
- To review and synthesize current literature on polypoidal choroidal vasculopathy (PCV).
- To enhance the understanding of PCV as a clinical entity.
- To discuss potential genetic factors and optimal treatment strategies for PCV.
Main Methods:
- Comprehensive literature review of recent clinical and genetic studies on PCV.
- Analysis of distinct clinical manifestations and natural history of PCV versus tAMD.
- Evaluation of genetic susceptibility and heterogeneity in PCV.
Main Results:
- PCV demonstrates unique vascular abnormalities and clinical presentations compared to tAMD.
- Differences in disease progression and therapeutic outcomes between PCV and tAMD are evident.
- Genetic studies indicate potential distinct genetic underpinnings and intra-PCV variations.
Conclusions:
- PCV represents a significant subtype of AMD with distinct characteristics.
- Understanding PCV's unique genetic and clinical profile is crucial for effective management.
- Tailored treatment strategies informed by recent clinical and genetic findings are essential for optimal PCV patient outcomes.
More Related Videos
09:37A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
7.7K
03:35Determining Gender-Based Differences in Retinal and Choroidal Thickness in Underweight Individuals via Swept-Source Optical Coherence Tomography
Published on: December 1, 2023
858
Related Concept Videos
01:27Diabetic Retinopathy
65
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...
65
01:27Principles of Pharmacogenetics: Types of Genetic Variants
143
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
143
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
773
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
773
01:25Glaucoma: Overview
1.7K
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
1.7K
01:20COPD: Pathogenesis and Clinical Features
2.1K
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
2.1K
01:30Pulmonary Hypertension: Classification and Pathogenesis
911
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
911