Angioid Streaks Of Choroid
Disease Details
Family Health Simplified
- Description
- Angioid streaks of the choroid are irregular, crack-like deformations in the Bruch's membrane of the retina, often associated with various systemic diseases.
- Type
- Angioid streaks of the choroid are associated with several systemic diseases but can also occur sporadically. When linked to systemic conditions, they can have a genetic basis, commonly inherited in an autosomal dominant manner.
- Signs And Symptoms
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Angioid streaks of the choroid are characterized by the following signs and symptoms:
- **Signs:**
- Appearance of irregular, jagged lines radiating from the optic disc, often visible on fundoscopic examination.
- The streaks are typically reddish-brown to gray and can be mistaken for blood vessels.
- **Symptoms:**
- Often asymptomatic in early stages.
- Possible visual disturbances or vision loss if the macula is involved.
- May lead to complications such as choroidal neovascularization, which can cause significant vision impairment.
Nan (not applicable; there are no relevant symptoms or signs specifically under "nan"). - Prognosis
- Angioid streaks of the choroid are irregular, crack-like deformations that appear in the Bruch's membrane of the eye, often associated with systemic diseases like pseudoxanthoma elasticum. The prognosis for patients with angioid streaks varies depending on the underlying condition and the extent of ocular involvement. Vision can be significantly affected if complications like choroidal neovascularization occur. Early detection and management of associated complications are crucial for preserving vision. Regular monitoring by an ophthalmologist is recommended.
- Onset
- Angioid streaks of the choroid typically have an onset in early adulthood.
- Prevalence
- Angioid streaks of the choroid are comparatively rare. They are often associated with certain systemic conditions such as pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget's disease, and sickle cell disease. The exact prevalence is not well-documented due to their infrequency and the variability in association with these underlying conditions.
- Epidemiology
- Angioid streaks of the choroid are rare retinal abnormalities that are often associated with several systemic conditions, including pseudoxanthoma elasticum, Ehlers-Danlos syndrome, and Paget's disease. The exact prevalence is not well-documented due to its rarity, but it is known to occur more frequently in individuals with the aforementioned conditions.
- Intractability
- Angioid streaks of the choroid are typically not considered intractable, meaning they can be managed, although not cured. They often do not cause symptoms and may not require treatment unless complications like choroidal neovascularization occur. When complications arise, treatments such as laser therapy, anti-vascular endothelial growth factor (anti-VEGF) injections, or photodynamic therapy may be used to manage symptoms and preserve vision. However, ongoing monitoring by an eye specialist is essential.
- Disease Severity
- Angioid streaks of the choroid are irregular, crack-like deformations in Bruch's membrane, found in the eye, which can lead to vision impairment. Severity can vary depending on associated complications. These streaks are often linked to systemic conditions like pseudoxanthoma elasticum, Ehlers-Danlos syndrome, and sickle cell disease. Progression and impact on vision differ among individuals. Regular monitoring by an eye care specialist is essential to manage potential complications.
- Healthcare Professionals
- Disease Ontology ID - DOID:979
- Pathophysiology
- Angioid streaks of the choroid are characterized by irregular, jagged lines that radiate outward from the optic disc. These streaks represent breaks in the Bruch's membrane, a supportive layer of the retina. Pathophysiologically, these streaks are commonly associated with conditions that cause degeneration or calcification of the Bruch's membrane, such as pseudoxanthoma elasticum, Ehlers-Danlos syndrome, and Paget disease. The weakened membrane is more susceptible to rupture, leading to the formation of these visible streaks. Over time, this can increase the risk of complications like choroidal neovascularization, which can significantly impair vision.
- Carrier Status
- Carrier status is not typically applicable to angioid streaks of the choroid, as it is not a condition inherited in a straightforward recessive or dominant pattern like some other genetic disorders. Angioid streaks are characterized by abnormalities in the elastic layer of Bruch's membrane and are often associated with systemic diseases such as pseudoxanthoma elasticum, Ehlers-Danlos syndrome, or Paget's disease. Therefore, the concept of carrier status does not directly apply to this condition.
- Mechanism
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Angioid streaks of the choroid are irregular, jagged lines that appear in the retina and are associated with breaks in Bruch's membrane, a layer of the eye situated between the retina and the choroid.
### Mechanism
The primary mechanism involves the degeneration and calcification of Bruch's membrane, which results in the formation of cracks or breaks. These breaks allow the choroidal blood vessels to become visible as streaks. The condition is commonly observed in association with several systemic diseases, particularly those that affect connective tissues, such as pseudoxanthoma elasticum (PXE), Ehlers-Danlos syndrome, and Paget’s disease of bone.
### Molecular Mechanisms
The molecular mechanisms underlying angioid streaks primarily involve abnormalities in extracellular matrix (ECM) components, including elastin and collagen.
1. **Pseudoxanthoma Elasticum (PXE):**
- Mutations in the ABCC6 gene lead to dysfunctional transporter proteins, which result in abnormal mineralization and fragmentation of elastin fibers in Bruch's membrane and other tissues.
- Altered matrix metalloproteinases (MMPs) activity could also play a role in degrading collagen and elastin, facilitating the formation of streaks.
2. **Ehlers-Danlos Syndrome:**
- Genetic defects in collagen production or structure result in weakened connective tissues. In Bruch's membrane, this could contribute to its breakdown and the formation of angioid streaks.
3. **Paget’s Disease of Bone:**
- Abnormal bone remodeling and excessive breakdown of bone tissue release calcium and other minerals, which can deposit in Bruch's membrane and contribute to its fragility and breakage.
In summary, the formation of angioid streaks is linked to defects in structural proteins of the ECM and alterations in tissue homeostasis and mineralization processes. - Treatment
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Angioid streaks of the choroid are irregular, crack-like dehiscences in Bruch's membrane and can be associated with several systemic conditions. Treatment primarily focuses on managing complications, such as choroidal neovascularization (CNV).
1. **Observation**: Regular monitoring for progression or complications.
2. **Anti-VEGF Therapy**: In cases of CNV, intravitreal injections of anti-vascular endothelial growth factor (anti-VEGF) agents can be used to reduce neovascularization and associated leakage.
3. **Laser Photocoagulation**: Rarely used due to risk of damage to surrounding tissues but may be considered in some cases of well-defined neovascular membranes.
4. **Photodynamic Therapy (PDT)**: Occasionally used for CNV to target abnormal blood vessels with less damage to surrounding tissue.
5. **Systemic Disease Management**: Address underlying systemic conditions such as pseudoxanthoma elasticum (PXE), Ehlers-Danlos syndrome, or Paget's disease of bone, which may contribute to or exacerbate the condition.
It is essential to consult an ophthalmologist for an individual assessment and appropriate treatment plan. - Compassionate Use Treatment
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There is currently no established cure for angioid streaks of the choroid. Treatment primarily focuses on managing complications, particularly related to choroidal neovascularization, which can lead to vision loss. Some experimental and off-label treatments may include:
1. **Anti-VEGF Therapy**: Drugs like bevacizumab (Avastin) and ranibizumab (Lucentis) are used off-label to treat choroidal neovascularization by inhibiting vascular endothelial growth factor (VEGF).
2. **Photodynamic Therapy (PDT)**: This technique uses a photosensitizing agent and laser light to target abnormal blood vessels. Verteporfin (Visudyne) is commonly used for this purpose.
3. **Steroid Injections**: Intravitreal or periocular steroids may be used to reduce inflammation and vascular leakage.
4. **Laser Photocoagulation**: An older method where a laser is used to seal leaking blood vessels, but it's less commonly used now due to potential for damaging surrounding tissues.
Experimental and compassionate use treatments should be discussed thoroughly with an ophthalmologist or a retinal specialist to understand the potential benefits and risks. - Lifestyle Recommendations
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Angioid streaks of the choroid are irregular lines that can appear in the layer of the eye called Bruch's membrane. They can be associated with several systemic conditions, including pseudoxanthoma elasticum, Ehlers-Danlos syndrome, and Paget's disease. Here are some general lifestyle recommendations for individuals with this condition:
1. **Regular Eye Examinations**: Regular check-ups with an ophthalmologist are crucial for monitoring the condition and early detection of any complications, such as choroidal neovascularization.
2. **Protective Eyewear**: Use sunglasses to protect your eyes from UV light and potential physical trauma, which can lead to retinal tears or detachments.
3. **Avoid High-Impact Activities**: Limit your participation in high-impact sports or activities that could cause trauma to the eyes, as individuals with angioid streaks are at an increased risk for retinal damage.
4. **Maintain a Healthy Diet**: Eat a balanced diet rich in vitamins and minerals beneficial for eye health, such as vitamins A, C, E, and zinc.
5. **Monitor for Symptoms**: Be vigilant for any changes in vision, such as sudden vision loss, distortions, or new floaters, and seek prompt medical attention if they occur.
6. **Manage Underlying Conditions**: If angioid streaks are associated with another systemic condition, follow appropriate medical advice to manage that condition effectively.
Adopting these lifestyle measures can help reduce the risk of complications and maintain overall eye health. - Medication
- Angioid streaks of the choroid are irregular lines in the retina that can be associated with various systemic conditions. While there is no specific medication to treat angioid streaks themselves, management focuses on treating any underlying conditions and monitoring for complications. For example, if the underlying condition is pseudoxanthoma elasticum, treatments aim to manage that disease. Additionally, protecting the eyes from trauma and monitoring regularly for choroidal neovascularization are important. If choroidal neovascularization occurs, treatments such as anti-VEGF injections may be used.
- Repurposable Drugs
- There are currently no widely accepted repurposable drugs specifically for the treatment of angioid streaks of the choroid. Management typically focuses on monitoring and treating complications such as choroidal neovascularization. In such cases, anti-VEGF (vascular endothelial growth factor) therapies, commonly used for conditions like age-related macular degeneration, may be employed. Examples include bevacizumab (Avastin), ranibizumab (Lucentis), and aflibercept (Eylea). However, their use is generally off-label for angioid streaks and should be guided by a specialist.
- Metabolites
- Angioid streaks of the choroid are irregular, jagged lines radiating from the optic disc, caused by breaks in Bruch's membrane, often associated with various systemic conditions. There is no direct evidence linking specific metabolites to the condition, and research does not provide information on nanotechnology applications (nan) for its management.
- Nutraceuticals
- Currently, there is no evidence to support that nutraceuticals have any effect on the prevention or treatment of angioid streaks of the choroid. Nutraceuticals are products derived from food sources with additional health benefits beyond basic nutritional value, but no specific nutraceuticals have been proven to impact this particular condition. It is essential to consult a healthcare professional for advice and treatment options if you have angioid streaks of the choroid.
- Peptides
- Angioid streaks of the choroid are characterized by breaks in Bruch’s membrane, often associated with systemic conditions like pseudoxanthoma elasticum, Paget’s disease, and Ehlers-Danlos syndrome. Peptides or nanotechnology-based treatments are not currently standard for addressing angioid streaks. Management typically focuses on monitoring and addressing complications such as choroidal neovascularization with treatments like anti-VEGF injections.