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Age Related Macular Degeneration 2

Disease Details

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Description: Age-related macular degeneration (AMD) is a medical condition that results in the deterioration of the central portion of the retina, leading to visual impairment or blindness in older adults.

Age-related macular degeneration (AMD) is a condition that causes progressive damage to the central retina, leading to loss of central vision in older adults.
Type: Age-related macular degeneration 2 (ARMD2) is associated with a complex, multifactorial type of genetic transmission. Several genetic and environmental factors contribute to its development, and it is not inherited in a simple Mendelian pattern. Variations in multiple genes, including the CFH gene, have been implicated in increasing the risk of developing ARMD2.
Signs And Symptoms: Age-related macular degeneration (AMD) primarily affects the central part of the retina known as the macula and can lead to vision loss. Here are the signs and symptoms typically associated with AMD:

1. Blurred vision
2. Difficulty recognizing faces
3. Straight lines appearing distorted or wavy
4. Dark or empty areas in the center of vision
5. Reduced central vision in one or both eyes
6. Difficulty adapting to low light levels, such as when entering a dimly lit room

It's important to have regular eye examinations to detect AMD early, even before these symptoms become apparent.
Prognosis: Age-related macular degeneration (AMD) is a medical condition which may result in blurry vision or a complete loss of vision in the center of the visual field.

1. **Prognosis**: The prognosis for AMD varies depending on the type (dry or wet) and the stage at which it is diagnosed. While the dry form of AMD progresses more slowly and leads to gradual vision loss, the wet form can cause rapid vision loss. Early diagnosis and timely treatment can help manage the condition and slow its progression. However, there is currently no cure, and advanced stages can lead to significant visual impairment.

2. **Nan**: No information available or non-applicable.
Onset: The onset of age-related macular degeneration (AMD) typically occurs in individuals who are 50 years or older. The disease progresses slowly and can lead to significant visual impairment over time.
Prevalence: Age-related macular degeneration (AMD) predominantly affects older adults, with its prevalence increasing with age. In the United States, approximately 11 million people have some form of AMD. The number is expected to double by 2050 due to an aging population.
Epidemiology: Age-related macular degeneration (AMD) is a leading cause of vision loss in individuals over the age of 50. It primarily affects the macula, which is responsible for central vision. AMD is categorized into two types: dry (atrophic) and wet (neovascular or exudative). Dry AMD is more common, accounting for about 85-90% of cases, while wet AMD, although less common, is responsible for the majority of severe vision loss.

The prevalence of AMD increases with age. It is estimated that approximately 8-10% of people aged 65-74 and about 30% of those aged 75 and older are affected by the disease. Other risk factors include smoking, genetics, race (more common in individuals of European descent), and diet.

There is no "nan" information required within this context.
Intractability: Age-related macular degeneration (AMD), in general, is a progressive eye condition that can lead to significant vision loss. While it is not completely intractable, meaning there are treatments available, it currently has no cure. Early-stage AMD can often be managed with lifestyle changes and nutritional supplements. Advanced stages, particularly the wet form of AMD, may benefit from treatments such as anti-VEGF injections, laser therapy, or photodynamic therapy, which can help slow disease progression and preserve vision. However, complete restoration of vision lost to AMD is not currently possible.
Disease Severity: Age-related macular degeneration (AMD) has various classifications in terms of disease severity:

1. **Early AMD**: Characterized by the presence of medium-sized drusen (yellow deposits beneath the retina) without significant vision loss.
2. **Intermediate AMD**: Involves larger drusen and/or pigment changes in the retina, with some vision impairment but not necessarily central vision loss.
3. **Advanced AMD (Late AMD)**:
- **Dry (Atrophic) AMD**: Marked by significant drusen and breakdown of light-sensitive cells and tissue in the macula leading to gradual vision loss.
- **Wet (Neovascular) AMD**: Characterized by abnormal blood vessels growing under the retina leading to leakage, bleeding, and scar tissue, resulting in rapid and severe vision loss.

"NAN" typically stands for "not a number," but without further context, it does not directly apply to the severity classifications of AMD.
Healthcare Professionals: Disease Ontology ID - DOID:0110015
Pathophysiology: Age-related macular degeneration (AMD) is a degenerative eye condition that primarily affects the macula, the central part of the retina responsible for sharp central vision. The pathophysiology involves:

1. **Drusen Formation**: Accumulation of yellow deposits (drusen) under the retina, which can indicate early stages of AMD.
2. **Retinal Pigment Epithelium Changes**: The RPE deteriorates, leading to visual impairment.
3. **Choroidal Neovascularization** (in wet AMD): Abnormal blood vessels grow under the retina and macula, leading to leakage, bleeding, and scarring, which exacerbates vision loss.
4. **Photoreceptor Damage**: Progressive damage to the photoreceptor cells in the retina, which are essential for capturing visual information.

There is no known involvement of "nan" in the pathophysiology of AMD. If "nan" refers to nanoparticles, research is being conducted on their use in diagnoses and treatment, but they are not part of the defined pathophysiology.
Carrier Status: Age-related macular degeneration (AMD) is a common eye condition affecting the macula, leading to vision loss in the elderly. It's more prevalent in individuals over the age of 50. Carrier status is typically not applicable to AMD as it is not a classic recessive genetic condition but rather involves complex interactions between multiple genetic and environmental factors.
Mechanism: Age-related macular degeneration (AMD) is a complex, multifactorial disease affecting the macula, the central part of the retina. For age-related macular degeneration, especially the subtype known as age-related macular degeneration 2 (ARMD2), the pathogenesis involves both genetic and environmental factors.

**Mechanism:**
- **Early AMD:** Characterized by the presence of drusen, which are yellow deposits under the retina. The accumulation of drusen signifies an abnormality in the retinal pigment epithelium (RPE) and its interactions with the photoreceptors and Bruch's membrane.
- **Intermediate AMD:** Involves an increase in the size and number of drusen and some disruption in RPE cells.
- **Late AMD:** Can progress to either geographic atrophy (dry AMD) or neovascular (wet AMD). Geographic atrophy involves the thinning and loss of RPE cells and photoreceptors. Neovascular AMD involves abnormal blood vessel growth from the choroid, leading to bleeding, leakage, and scarring.

**Molecular mechanisms:**
1. **Oxidative Stress:** RPE cells are particularly susceptible to oxidative damage due to high metabolic activity and continuous exposure to light and oxygen. Reactive oxygen species (ROS) can damage cellular components, leading to RPE dysfunction and death.

2. **Inflammation:** Chronic low-grade inflammation is a key contributor to AMD. The activation of the complement system (part of the immune system) plays a crucial role. Genetic variants in complement factor H (CFH), complement component 2 (C2), and complement factor B (CFB) are associated with increased AMD risk.

3. **Lipid Metabolism:** Dysregulation of lipid metabolism in the RPE and Bruch's membrane contributes to drusen formation. Apolipoprotein E (APOE) genotype is implicated in lipid transport and is a known risk factor.

4. **Angiogenesis:** In neovascular AMD, vascular endothelial growth factor (VEGF) promotes the growth of abnormal blood vessels. Anti-VEGF therapies are used to manage this form of AMD.

5. **Genetic Factors:** Single nucleotide polymorphisms (SNPs) in various genes, such as ARMS2/HTRA1, are associated with AMD. These genetic variants can influence complement activation, lipid metabolism, and extracellular matrix remodeling.

6. **Mitochondrial Dysfunction:** Mitochondria in RPE cells are affected by cumulative oxidative damage over time, leading to impaired energy production and increased susceptibility to apoptosis.

7. **Extracellular Matrix Remodeling:** Changes in Bruch's membrane due to aging and disease can impair nutrient and waste exchange, contributing to the pathology of AMD.

Understanding these molecular mechanisms helps in developing targeted therapies to slow or prevent the progression of AMD.
Treatment: There is no current cure for age-related macular degeneration (AMD), but treatments are available to manage its progression:

1. **Anti-VEGF Injections:** These injections can help reduce the growth of abnormal blood vessels in the retina and slow the progression of wet AMD.

2. **Photodynamic Therapy (PDT):** This involves using a light-sensitive drug that is activated by laser light to destroy abnormal blood vessels.

3. **Laser Therapy:** In some cases, a laser may be used to destroy abnormal blood vessels.

4. **Nutritional Supplements:** Specific high-dose combinations of vitamins and minerals (AREDS2 formula) may slow the progression of dry AMD.

5. **Low Vision Aids:** Devices such as special lenses can help individuals with AMD to maximize their remaining vision.

Discussing with an eye care specialist is essential for an individualized treatment plan.
Compassionate Use Treatment: Compassionate use treatment and off-label or experimental treatments for age-related macular degeneration (AMD), particularly advanced stages like AMD 2, are considered when standard therapies are ineffective. Some options include:

1. **Compassionate Use Treatments:**
- **Anti-VEGF Therapy:** Drugs like aflibercept (Eylea), ranibizumab (Lucentis), and bevacizumab (Avastin) may be available under compassionate use if standard treatments are insufficient.

2. **Off-label Treatments:**
- **Bevacizumab (Avastin):** Commonly used off-label due to cost-effectiveness, despite being FDA approved for other conditions.

3. **Experimental Treatments:**
- **Stem Cell Therapy:** Investigational for repairing retinal damage.
- **Gene Therapy:** Focuses on correcting genetic mutations associated with AMD.
- **Complement Inhibitors:** New drug classes targeting the complement pathway, involved in inflammation and immune response.
- **Neuroprotective Agents:** Aimed at protecting retinal neurons from degeneration.

Consultation with a healthcare provider is essential to determine eligibility and potential efficacy of these treatments.
Lifestyle Recommendations: For age-related macular degeneration (AMD), here are some lifestyle recommendations that may help manage the condition and possibly slow its progression:

1. **Quit Smoking**: Smoking is a significant risk factor for AMD. Stopping smoking can reduce the risk of developing the condition or slow its progression.

2. **Healthy Diet**: Consume a diet rich in leafy green vegetables, fish, fruits, and nuts. Foods high in antioxidants like vitamins C and E, zinc, and beta-carotene can be beneficial.

3. **Omega-3 Fatty Acids**: Include fish or fish oil supplements in your diet. Omega-3 fatty acids, found in fish like salmon and tuna, may lower the risk of advanced AMD.

4. **Weight Management**: Maintain a healthy weight to reduce the risk of AMD progression.

5. **Exercise**: Engage in regular physical activity to improve overall health, including eye health.

6. **Protect Eyes from UV Light**: Wear sunglasses that block UV rays and a wide-brimmed hat when outdoors to protect your eyes from harmful sunlight.

7. **Monitor Eye Health**: Schedule regular eye check-ups, especially if you have risk factors for AMD or symptoms such as blurred vision or difficulty seeing in low light.

8. **Control Other Health Conditions**: Manage high blood pressure, high cholesterol, and cardiovascular disease, as these can impact eye health.

Following these recommendations can help manage age-related macular degeneration and potentially slow the progression of the disease.
Medication: Medication for age-related macular degeneration (AMD) type 2 (wet AMD) typically includes anti-VEGF (vascular endothelial growth factor) drugs, such as:

1. **Ranibizumab (Lucentis)**
2. **Bevacizumab (Avastin)**
3. **Aflibercept (Eylea)**

These medications are injected directly into the eye to help reduce the growth of abnormal blood vessels and slow down vision loss. Follow-up injections and regular monitoring by an ophthalmologist are usually required.
Repurposable Drugs: Currently, there is no widely recognized and approved repurposable drug specifically identified for Age-related Macular Degeneration (AMD). However, certain medications used for other conditions, such as anti-VEGF (vascular endothelial growth factor) treatments originally developed for cancer therapy, like Bevacizumab (Avastin) and Ranibizumab (Lucentis), are utilized off-label or have been adapted for use in AMD. Further research and clinical trials are ongoing to explore additional repurposable drugs.
Metabolites: Age-related macular degeneration (AMD) involves metabolic alterations in the retina. Key metabolites associated with AMD include lipofuscin, a byproduct of retinal metabolism, and deposits known as drusen, which contain lipids, proteins, and inflammatory molecules. These metabolites can contribute to the progression of the disease by damaging retinal cells and impeding normal cellular function.
Nutraceuticals: Age-related macular degeneration (AMD) is a common eye condition and a leading cause of vision loss among people age 50 and older. Nutraceuticals are products derived from food sources that provide extra health benefits in addition to their basic nutritional value. For AMD, several nutraceuticals have been studied for their potential benefit:

1. **Antioxidants**: Vitamins C and E, lutein, and zeaxanthin have been associated with a lower risk of AMD progression.
2. **Zinc and Copper**: These minerals play a role in eye health and are commonly included in formulations aimed at slowing AMD progression.
3. **Omega-3 Fatty Acids**: Found in fish oil, these may have a role in eye health.
4. **AREDS and AREDS2 Supplements**: Formulations based on the Age-Related Eye Disease Study (AREDS) and its follow-up AREDS2 have been shown to reduce the risk of late-stage AMD in people with intermediate AMD or advanced AMD in one eye.

These nutraceuticals can provide supportive measures in managing AMD but are not a cure. It is essential to consult a healthcare professional before starting any new supplement regimen.
Peptides: Peptides and nanoparticles (nan) are being explored as potential therapeutic strategies for age-related macular degeneration (AMD), a leading cause of vision loss in older adults. Peptides can target specific molecular pathways involved in AMD to reduce inflammation and angiogenesis. Nanotechnology, on the other hand, offers targeted drug delivery systems that can enhance the effectiveness and reduce the side effects of treatments. Both approaches are still under research but show promising potential in managing and treating AMD.