Leber Congenital Amaurosis 10
Disease Details
Family Health Simplified
- Description
- Leber congenital amaurosis 10 is a rare genetic disorder characterized by severe vision loss or blindness at birth due to mutations affecting the retina.
- Type
- Leber congenital amaurosis 10 (LCA10) is a form of Leber congenital amaurosis. The type of genetic transmission for LCA10 is autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.
- Signs And Symptoms
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Leber Congenital Amaurosis 10 (LCA10) is a severe inherited retinal disorder. Here are the signs and symptoms:
- Severe vision loss or blindness apparent in infancy or early childhood
- Poor pupillary light response
- Nystagmus (involuntary eye movements)
- Photophobia (sensitivity to light)
- Hyperopia (farsightedness)
- Eye poking or rubbing (oculodigital sign) due to poor vision
- Abnormal electroretinogram (ERG) indicating diminished or absent retinal activity
LCA10 is caused by mutations in the CEP290 gene, leading to early-onset photoreceptor dysfunction. - Prognosis
- Leber congenital amaurosis 10 (LCA10) is a form of Leber congenital amaurosis, which is an inherited retinal dystrophy that leads to severe visual impairment from birth. The prognosis for individuals with LCA10 includes severe vision loss early in life, which typically remains stable and does not improve over time. However, the extent of visual impairment can vary among individuals. There is currently no cure, but ongoing research in gene therapy and other treatments holds promise for future interventions.
- Onset
- Leber congenital amaurosis 10 (LCA10) typically has an onset at birth or within the first few months of life. Newborns may show severe visual impairment or blindness.
- Prevalence
- Leber congenital amaurosis (LCA) overall has a prevalence of approximately 2 to 3 per 100,000 newborns. Specific prevalence for LCA10, caused by mutations in the CEP290 gene, is not well-documented but it is one of the more common forms of LCA.
- Epidemiology
- Leber Congenital Amaurosis 10 (LCA10) is a rare genetic disorder primarily affecting the retina, leading to severe visual impairment or blindness from birth or early infancy. LCA10 is caused by mutations in the CEP290 gene. It is part of the broader group of Leber congenital amaurosis diseases and is inherited in an autosomal recessive manner. The prevalence of all types of LCA combined is approximately 2-3 per 100,000 live births, but specific epidemiological data for LCA10 alone is limited.
- Intractability
- Leber congenital amaurosis 10 (LCA10) is associated with mutations in the CEP290 gene and is a severe inherited retinal dystrophy. Currently, there are no definitive cures for LCA10, making the condition largely intractable. However, research is ongoing, and some experimental treatments, such as gene therapy, have shown promise in clinical trials.
- Disease Severity
- For Leber Congenital Amaurosis 10 (LCA10), disease severity is typically severe as it leads to significant visual impairment or blindness from birth or early childhood. This genetic disorder affects the retina, the light-sensitive layer at the back of the eye, and is typically caused by mutations in the CEP290 gene.
- Healthcare Professionals
- Disease Ontology ID - DOID:0110291
- Pathophysiology
- Leber Congenital Amaurosis 10 (LCA10) is a severe, early-onset retinal dystrophy caused by mutations in the CEP290 gene. The CEP290 protein is involved in the function and stability of primary cilia, which are essential for photoreceptor cells in the retina. Defective CEP290 disrupts ciliary function, leading to photoreceptor cell dysfunction and degeneration, causing severe vision impairment from a young age.
- Carrier Status
- Leber Congenital Amaurosis 10 (LCA10) is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene to exhibit symptoms of the disease. If an individual carries only one copy of the mutated gene, they are considered a carrier but typically do not show symptoms. Carrier status can be determined through genetic testing.
- Mechanism
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Leber congenital amaurosis 10 (LCA10) is a subtype of Leber congenital amaurosis, an inherited retinal dystrophy leading to severe vision loss at birth or in early infancy. The underlying mechanism involves mutations in the CEP290 gene.
### Mechanism:
The CEP290 gene encodes a protein that is essential for the function and stability of ciliary structures in retinal photoreceptor cells. These cilia play a crucial role in phototransduction—the process by which light is converted into electrical signals in the retina. Mutations in the CEP290 gene disrupt the normal function of these cilia, leading to photoreceptor degeneration.
### Molecular Mechanisms:
1. **Mutations in CEP290**: Mutations may include frameshift, nonsense, or splice-site mutations that result in a nonfunctional or truncated CEP290 protein.
2. **Ciliary Dysfunction**: The mutated CEP290 protein fails to perform its role in maintaining and regulating ciliary function, which impairs the photoreceptors' ability to process light.
3. **Photoreceptor Degeneration**: Dysfunctional cilia lead to the progressive degeneration of photoreceptors, primarily rods and cones, resulting in the characteristic severe vision loss of LCA10.
Understanding these molecular mechanisms is crucial for developing gene therapies and other targeted treatments. - Treatment
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Leber congenital amaurosis 10 (LCA10) is a rare genetic disorder that leads to severe vision impairment from birth. Currently, there is no definitive cure for LCA10. However, research is ongoing, and some potential treatments include:
- **Gene Therapy:** Efforts are being made to develop gene therapy techniques to address the specific genetic mutations causing LCA10.
- **Visual Aids:** Use of devices and technologies to assist with vision.
- **Supportive Therapies:** Services like occupational therapy and mobility training to help individuals manage daily activities.
Consultation with a specialist in genetic eye disorders is recommended to explore the latest advancements and personalized care options. - Compassionate Use Treatment
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Leber Congenital Amaurosis 10 (LCA10) is associated with mutations in the CEP290 gene. For compassionate use treatments, off-label, or experimental options:
1. **Gene Therapy**:
- There are ongoing clinical trials for gene therapy targeting the CEP290 gene. One notable example is EDIT-101 by Editas Medicine, which uses CRISPR technology to edit the mutated gene directly in retinal cells.
2. **Antisense Oligonucleotides (ASOs)**:
- QR-110 (Sepofarsen) by ProQR is an experimental treatment using ASOs to modify the splicing of the CEP290 mRNA, aiming to restore some function of the protein. Clinical trials are underway to determine its efficacy.
Patients interested in these treatments may participate in clinical trials or seek access through compassionate use programs, typically coordinated by their healthcare providers and the companies developing these therapies. - Lifestyle Recommendations
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Leber congenital amaurosis 10 (LCA10) is a rare inherited eye disorder leading to severe vision loss at birth. Here are some lifestyle recommendations for individuals affected by LCA10:
1. **Regular Eye Exams**: Frequent check-ups with an ophthalmologist are crucial to monitor eye health and receive appropriate treatments or interventions.
2. **Assistive Devices**: Utilize low vision aids such as magnifiers, screen readers, and Braille devices to enhance daily living and learning capabilities.
3. **Accessible Environments**: Adapt living and working spaces to be more accessible. Good lighting, organized layouts, and mobility aids can significantly improve independence.
4. **Education and Vocational Training**: Seek specialized education programs and vocational training that accommodate visual impairments to develop necessary skills for academic and career success.
5. **Physical Activity**: Engage in adapted physical activities to maintain overall health and well-being, considering safety and accessibility.
6. **Support Networks**: Connect with support groups, counseling, and community resources to navigate social and emotional challenges.
7. **Healthy Diet**: Maintain a balanced diet with nutrients that support eye health, such as vitamins A, C, and E, and Omega-3 fatty acids.
8. **Genetic Counseling**: For family planning and to understand inheritance patterns, genetic counseling can provide valuable information and support.
These recommendations help manage the condition and improve the quality of life for those with LCA10. - Medication
- Leber Congenital Amaurosis 10 (LCA10) is primarily caused by mutations in the CEP290 gene. As of now, there is no specific medication approved for LCA10. However, investigational therapies, such as gene editing and gene therapy approaches targeting the CEP290 gene, are currently being researched.
- Repurposable Drugs
- Leber Congenital Amaurosis 10 (LCA10) is a form of Leber Congenital Amaurosis caused by mutations in the CEP290 gene. Currently, there are no widely accepted repurposable drugs specifically for LCA10. However, there are ongoing research efforts to explore potential treatments, including gene therapy techniques designed to target and correct the underlying genetic defects associated with this condition.
- Metabolites
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Leber congenital amaurosis 10 (LCA10) is primarily a genetic disorder affecting vision, and there is limited detailed information available about specific metabolites associated with this condition. LCA10 is caused by mutations in the CEP290 gene, which is important for the function and maintenance of photoreceptor cells in the retina.
Due to the genetic nature of LCA10, primary focus is often on genetic and protein studies rather than metabolic profiling. However, abnormal metabolism within the photoreceptor cells could theoretically be involved as a secondary effect of the disrupted CEP290 protein.
For detailed metabolic pathways or markers, specialized research studies or metabolic analyses would be required, and as of the latest knowledge, there are no widely recognized specific metabolites directly linked to LCA10. - Nutraceuticals
- For Leber Congenital Amaurosis 10, there is currently no established treatment with nutraceuticals. If you are seeking information on potential dietary supplements or alternative therapies, it is important to consult with a medical professional specializing in genetic eye disorders. They can provide guidance based on the most recent research and individual patient needs.
- Peptides
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Leber Congenital Amaurosis 10 (LCA10) is a subtype of Leber Congenital Amaurosis, a group of inherited retinal dystrophies causing severe vision loss at an early age. It is caused by mutations in the CEP290 gene.
In terms of peptide therapies, there is ongoing research involving peptide delivery mechanisms as potential treatments for retinal dystrophies, including those resulting from CEP290 mutations. However, specific peptide-based treatments for LCA10 are not yet established.
Nanotechnology (nanomedicine) is also being explored in the context of retinal diseases. Nanoparticles can potentially be used for delivering gene therapy agents directly to retinal cells. One prominent approach for LCA10 involves gene editing techniques such as CRISPR-Cas9, which has been facilitated by nanoscale delivery systems. Although promising, these approaches are primarily in experimental stages and clinical trials.