Doyne Honeycomb Retinal Dystrophy
Disease Details
Family Health Simplified
- Description
- Doyne honeycomb retinal dystrophy is a rare genetic eye disorder characterized by the development of small, grid-like lesions on the retina, leading to vision loss.
- Type
- Doyne honeycomb retinal dystrophy is a type of inherited eye disorder. It follows an autosomal dominant pattern of genetic transmission.
- Signs And Symptoms
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Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese, is a genetic eye disorder that primarily affects the retina. The signs and symptoms include:
1. **Drusen:** Yellow or white deposits form under the retina, which can be seen during an eye examination.
2. **Vision Loss:** Progressive central vision loss, often starting in early adulthood.
3. **Peripheral Vision:** Peripheral vision is typically preserved.
4. **Difficulty Seeing in Low Light:** Patients may experience trouble seeing in dim lighting conditions.
5. **Distorted Vision:** Objects may appear distorted or wavy (metamorphopsia).
The condition is inherited in an autosomal dominant manner and is associated with mutations in the EFEMP1 gene. - Prognosis
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Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese, is a rare inherited eye disorder.
**Prognosis:**
The prognosis of Doyne honeycomb retinal dystrophy varies among individuals. Generally, it leads to a gradual loss of central vision due to the accumulation of drusen (yellow-white deposits) beneath the retina. Though peripheral vision is typically preserved, significant visual impairment usually occurs in later adulthood.
**NAN:**
No additional information available specifically regarding a term or abbreviation "nan" in the context of Doyne honeycomb retinal dystrophy. Further context may be required to provide a detailed response. - Onset
- Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese, typically has an onset in the second or third decade of life. This hereditary eye disorder is characterized by the development of drusen (yellow-white deposits) under the retina, which can affect vision. The condition is progressive, and symptoms such as difficulty seeing in low light and central vision loss may worsen over time.
- Prevalence
- Doyne honeycomb retinal dystrophy, also known as malattia leventinese, is a rare genetic eye disorder. The precise prevalence is not well-established but is considered to be very low, affecting only a small number of individuals worldwide.
- Epidemiology
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Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese, is a rare inherited eye disorder.
**Epidemiology:**
- **Prevalence:** The exact prevalence is not well-documented but it is considered rare.
- **Age of Onset:** Symptoms typically begin in the second to third decade of life.
- **Geographic Distribution:** It has been reported in various populations worldwide, but certain regions may have higher incidences due to genetic factors.
- **Inheritance Pattern:** DHRD follows an autosomal dominant inheritance pattern.
For further details such as clinical features and molecular genetics of DHRD, additional resources or a specialist consultation may be necessary. - Intractability
- Doyne honeycomb retinal dystrophy is not curable, making it generally intractable. The condition leads to progressive vision loss due to the accumulation of drusen in the retina. Management focuses on monitoring and symptomatic relief, but there is no definitive cure to stop or reverse the disease's progression.
- Disease Severity
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Doyne Honeycomb Retinal Dystrophy:
- **Disease Severity**: This condition varies in severity, with some individuals experiencing minimal visual impairment, while others may progress to significant vision loss due to the accumulation of drusen and degeneration of the retinal layers.
- **Nan**: Not applicable or no specific information available. - Healthcare Professionals
- Disease Ontology ID - DOID:0060745
- Pathophysiology
- Doyne honeycomb retinal dystrophy, also known as malattia leventinese, is inherited in an autosomal dominant pattern and is linked to mutations in the EFEMP1 gene. The pathophysiology involves the accumulation of drusen, which are extracellular, lipid-rich deposits, between the retinal pigment epithelium (RPE) and Bruch's membrane. These drusen can disrupt the normal architecture and function of the retina, leading to progressive vision loss. The exact mechanism through which EFEMP1 mutations cause drusen formation remains under investigation, but it is thought that abnormal protein products accumulate and impair the normal maintenance and function of the extracellular matrix in the retina. This results in the characteristic honeycomb pattern of retinal degeneration seen in this disease.
- Carrier Status
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Doyne honeycomb retinal dystrophy (DHRD), also known as Malattia Leventinese, is an inherited eye disorder that leads to the progressive loss of vision. It is typically caused by mutations in the EFEMP1 gene and follows an autosomal dominant inheritance pattern. This means that having just one mutated copy of the gene is sufficient to cause the disorder.
Carrier status in the context of an autosomal dominant condition like DHRD is not applicable in the same way it is for autosomal recessive disorders because carriers, in this case, usually exhibit symptoms of the disease. Hence, individuals with one mutated EFEMP1 gene will likely develop DHRD. - Mechanism
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Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese, is a genetic ocular disease characterized by the accumulation of drusen (yellowish deposits) beneath the retinal pigment epithelium, leading to progressive vision loss.
**Mechanism:**
The primary mechanism involves the accumulation of drusen deposits in the macula, the central part of the retina. This buildup disrupts normal retinal function, leading to degeneration of the retinal cells and eventual vision impairment.
**Molecular Mechanisms:**
DHRD is typically associated with mutations in the EFEMP1 gene (also known as fibulin-3). The EFEMP1 gene encodes a protein, fibulin-3, which is involved in the structural integrity of the extracellular matrix in the retina. Mutations in EFEMP1 cause an abnormal form of fibulin-3, which can lead to the accumulation of drusen.
The exact pathogenic mechanisms might include:
1. **Misfolding of Fibulin-3**: Mutant fibulin-3 proteins may misfold, leading to improper interactions with other extracellular matrix components.
2. **Disruption of Cellular Processes**: Abnormal fibulin-3 may interfere with cell signaling, leading to dysfunction and death of retinal cells.
3. **Accumulation of Cellular Debris**: Impaired fibulin-3 function results in the accumulation of metabolic by-products, forming drusen.
These disruptions collectively contribute to the degeneration of the retina, especially at the macula, leading to the clinical presentation of DHRD. - Treatment
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Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese, is primarily managed through supportive care as there is no cure. Treatment focuses on monitoring the condition and managing symptoms, which may include:
1. Regular Eye Examinations: Frequent check-ups with an ophthalmologist to monitor disease progression.
2. Low Vision Aids: Devices such as magnifying glasses to help with visual impairment.
3. Genetic Counseling: For affected individuals and their families, to understand inheritance patterns and risks.
Currently, there are no specific drug treatments or surgical options available that can cure or reverse the condition. Research into potential gene therapies and other treatments is ongoing. - Compassionate Use Treatment
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Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese, currently lacks well-established treatment options. However, there are a few approaches that might be considered under compassionate use or experimental contexts:
1. **Anti-VEGF Therapy:** Drugs such as bevacizumab (Avastin) and ranibizumab (Lucentis) have been used off-label in some forms of inherited retinal diseases to manage complications like choroidal neovascularization (abnormal blood vessel growth).
2. **Gene Therapy:** Although not specifically approved for Doyne honeycomb retinal dystrophy, emerging gene therapy techniques targeting similar genetic retinal disorders could eventually offer potential treatment options.
3. **Antioxidants and Nutritional Supplements:** Some studies suggest that antioxidants like lutein and zeaxanthin, along with vitamins C and E, might support retinal health, though evidence specific to this dystrophy is still limited.
4. **Retinal Prosthesis and Implants:** Experimental approaches including retinal implants and prostheses are being researched for various types of retinal degenerative diseases and might hold future promise.
Patients should consult with a retinal specialist to explore these and any other potential treatment avenues, and to get enrolled in clinical trials if available. - Lifestyle Recommendations
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Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese, is a genetic eye disorder that affects the retina. While there is no cure, certain lifestyle recommendations may help manage the condition and improve quality of life:
1. **Regular Eye Examinations**: Regular check-ups with an ophthalmologist are crucial for monitoring the progression of the disease and managing symptoms.
2. **Protective Eyewear**: Wear sunglasses with UV protection to minimize retinal damage from sunlight exposure.
3. **Healthy Diet**: Consume a diet rich in antioxidants, omega-3 fatty acids, and vitamins A, C, and E. Foods like leafy greens, fish, nuts, and fruits can promote eye health.
4. **Avoid Smoking**: Smoking can exacerbate retinal problems and should be avoided.
5. **Manage Overall Health**: Keep chronic conditions such as hypertension and diabetes under control, as these can impact eye health.
6. **Adequate Lighting**: Ensure good lighting in your living spaces to reduce strain on your eyes.
7. **Low Vision Aids**: Utilize magnifying glasses, brighter reading lights, or other low vision aids to assist with daily tasks.
8. **Stay Informed**: Keep abreast of any new treatments or clinical trials that may be relevant to your condition. - Medication
- Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese, is a genetic eye disorder that leads to the formation of drusen deposits in the retina, potentially impacting vision. Currently, there is no specific medication to treat or cure this condition. Management focuses on monitoring vision and addressing complications such as choroidal neovascularization, which can sometimes be treated using anti-VEGF (vascular endothelial growth factor) injections. Genetic counseling is also recommended for affected individuals and their families. Regular eye exams are crucial for monitoring the progression of the disease.
- Repurposable Drugs
- No repurposable drugs have been specifically identified for Doyne Honeycomb Retinal Dystrophy (DHRD). This condition, also known as Malattia Leventinese, is a rare genetic eye disorder that currently lacks targeted drug treatments. Management typically focuses on monitoring and supportive care to address symptoms and maintain vision as much as possible.
- Metabolites
- Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese, is a rare genetic eye disorder characterized by the development of drusen on the retina, which can lead to vision impairment. As of current medical knowledge, there are no specific metabolites directly associated with this condition. Research has primarily focused on genetic aspects, such as mutations in the EFEMP1 gene. Thus, there are no particular nanotechnologies (nan.) currently associated with the treatment or diagnosis of this condition.
- Nutraceuticals
- Currently, there is no established nutraceutical therapy for Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese. This is a rare genetic condition that primarily affects the retina, leading to progressive vision loss. Management typically involves regular monitoring and supportive measures to maintain visual function. Research in nutraceuticals specific to this condition is limited. It is essential for patients to consult healthcare providers for personalized advice and potential future treatments.
- Peptides
- Doyne honeycomb retinal dystrophy (DHRD), also known as Malattia Leventinese, is a genetic eye disorder characterized by the formation of drusen, or yellow-white deposits, beneath the retina. There is no current peptide-based treatment for DHRD; the condition is primarily managed through regular monitoring and supportive care to address vision changes. Research into targeted therapies, including peptide-based approaches, is ongoing.