Leber Congenital Amaurosis 17
Disease Details
Family Health Simplified
- Description
- Leber congenital amaurosis 17 (LCA17) is a rare inherited retinal disorder characterized by severe vision loss or blindness at birth due to mutations in the GUCY2D gene.
- Type
- Leber congenital amaurosis 17 (LCA17) is a type of hereditary retinal dystrophy that leads to severe vision loss at an early age. The type of genetic transmission for LCA17 is autosomal recessive.
- Signs And Symptoms
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Leber congenital amaurosis 17 (LCA17) is a form of a rare genetic disorder primarily affecting vision.
**Signs and symptoms of LCA17 include:**
- Severe visual impairment or blindness from infancy
- Involuntary eye movements (nystagmus)
- Poor pupillary light reflex
- Abnormal sensitivity to light (photophobia)
- Poor night vision (nyctalopia)
- Urging of the eyes, or eye-poking (oculodigital reflex)
Patients may also demonstrate other systemic symptoms depending on the involvement of non-ocular tissues, although these are less common in LCA17 specifically. - Prognosis
- Leber Congenital Amaurosis 17 (LCA17) is a genetic condition that initially causes severe visual impairment in infancy or early childhood. The prognosis typically involves progressive vision loss, which can lead to near-total blindness. The rate of progression and severity can vary between individuals.
- Onset
- Leber congenital amaurosis 17 (LCA17) typically manifests in infancy or early childhood.
- Prevalence
- Leber congenital amaurosis 17 (LCA17) is a very rare genetic disorder, and specific prevalence data for this subtype are not well-documented in the literature. It is part of a group of inherited retinal dystrophies that collectively have an estimated prevalence of approximately 1 in 30,000 to 1 in 81,000 individuals worldwide.
- Epidemiology
- Leber congenital amaurosis 17 (LCA17) is a rare genetic disorder that affects the retina, leading to severe vision impairment or blindness from birth or early childhood. Specific epidemiological data for LCA17 are limited due to its rarity and the broad classification under the general LCA spectrum. Generally, LCA as a whole occurs in approximately 2 to 3 per 100,000 live births globally. As an individual subtype, LCA17 would account for a smaller fraction of these cases.
- Intractability
- Leber congenital amaurosis (LCA) is a group of hereditary retinal dystrophies that result in severe vision loss from birth or early infancy. There is currently no cure for LCA, including LCA17, which is associated with mutations in the GDF6 gene. While some gene therapy approaches show promise for certain types of LCA, effective treatment for LCA17 remains elusive, making it intractable at present. However, research is ongoing, and future therapeutic advancements may offer solutions.
- Disease Severity
- Leber congenital amaurosis 17 (LCA17) typically presents as a severe form of congenital retinal dystrophy, leading to significant visual impairment or blindness from birth or early infancy.
- Healthcare Professionals
- Disease Ontology ID - DOID:0110217
- Pathophysiology
- Leber Congenital Amaurosis 17 (LCA17) is a form of inherited retinal dystrophy characterized by severe vision loss or blindness at birth or within the first few months of life. It is caused by mutations in the GDF6 gene, which is crucial for retinal development and function. The disrupted GDF6 gene impairs the development and maintenance of photoreceptor cells in the retina, leading to early and progressive degeneration of retinal tissue and subsequent vision loss.
- Carrier Status
- Leber Congenital Amaurosis 17 (LCA17) is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disease. Carrier status refers to individuals who have one copy of the mutated gene and one normal copy; these carriers typically do not exhibit symptoms but can pass the mutated gene to their offspring. The specific gene involved in LCA17 is GDF6.
- Mechanism
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Leber congenital amaurosis 17 (LCA17) is a genetic disorder that primarily affects vision, leading to severe visual impairment from a young age.
**Mechanism:**
LCA17 is caused by mutations in the GDF6 gene. The GDF6 gene encodes a growth differentiation factor that is part of the transforming growth factor-beta (TGF-β) superfamily, which is involved in the development and maintenance of various tissues, including the retina.
**Molecular Mechanisms:**
1. **Retinal Development and Maintenance:**
- The GDF6 protein plays a crucial role in the differentiation and survival of retinal cells. Mutations in GDF6 can disrupt these processes, leading to retinal degeneration.
2. **Apoptosis Regulation:**
- GDF6 is involved in the regulation of cell death (apoptosis) in the retina. Mutations can cause inappropriate apoptosis, resulting in loss of retinal cells and subsequent vision impairment.
3. **Signaling Pathways:**
- GDF6 functions through specific signaling pathways, such as the BMP (bone morphogenetic protein) pathway. Disruption in these pathways due to mutations can impair retinal cell communication and function.
Understanding these molecular mechanisms highlights the importance of GDF6 in the maintenance of retinal health and the pathogenesis of LCA17. - Treatment
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Leber congenital amaurosis 17 (LCA17) is primarily treated through supportive and symptomatic measures aimed at managing the visual impairment and associated symptoms. There is currently no cure for LCA17, but potential treatments may include:
1. **Vision Aids**: Utilization of low vision aids, such as magnifiers, screen-reading software, and other assistive technologies, can help individuals make the most of their remaining vision.
2. **Genetic Counseling**: Families of affected individuals may benefit from genetic counseling to understand the inheritance pattern and implications for future offspring.
3. **Ongoing Research**: Researchers are investigating gene therapy approaches and other novel treatments that might offer more direct intervention for LCA17 in the future.
Routine ophthalmologic evaluations and early intervention with supportive therapies are essential to improve the quality of life for individuals with LCA17. - Compassionate Use Treatment
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Leber Congenital Amaurosis 17 (LCA17) is a rare genetic disorder leading to severe vision loss or blindness from birth. For compassionate use treatment and off-label or experimental treatments, here are some options:
1. **Compassionate Use Treatment**:
- **Gene Therapy**: While specific gene therapies for LCA17 are still in experimental stages, compassionate use programs may occasionally permit access to investigational treatments for patients with no other options.
2. **Off-Label or Experimental Treatments**:
- **Luxturna (voretigene neparvovec)**: Although approved for LCA caused by RPE65 mutations, some clinicians might explore off-label utility for other LCA subtypes, including LCA17, primarily in experimental settings.
- **Clinical Trials**: Patients may enroll in ongoing clinical trials evaluating new gene therapies or other innovative treatments specifically targeting LCA17 or related genetic forms.
- **Retinal Implants and Prosthetics**: Research and experimental use of retinal implants like the Argus II retinal prosthesis may offer potential benefits for some LCA patients, though not specifically approved for LCA17.
Patients should consult with their healthcare provider or a specialist in genetic eye disorders to explore the most current and suitable treatments. - Lifestyle Recommendations
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Leber Congenital Amaurosis 17 (LCA17) is a rare inherited retinal disorder that leads to severe visual impairment from infancy. Here are some lifestyle recommendations for managing the condition:
1. **Vision Aids**: Utilize low vision aids such as magnifiers, screen readers, and Braille materials to enhance daily activities and learning.
2. **Regular Eye Exams**: Schedule regular check-ups with an ophthalmologist to monitor any changes in vision and explore potential treatments.
3. **Healthy Diet**: Maintain a balanced diet rich in antioxidants to support overall eye health.
4. **Safe Environment**: Ensure that living spaces are safe and accessible, minimizing fall risks and other hazards for those with impaired vision.
5. **Support Networks**: Engage with support groups and resources for individuals with visual impairments to exchange information and emotional support.
6. **Education and Advocacy**: Advocate for educational accommodations if needed, such as individualized education plans (IEPs) or 504 plans, ensuring access to appropriate learning resources.
7. **Physical Activity**: Encourage participation in physical activities that are safe and adapted to vision limitations, promoting overall health and well-being.
Since this condition varies significantly among individuals, personalized recommendations from healthcare providers are essential. - Medication
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Leber Congenital Amaurosis 17 (LCA17) is a genetic disorder that primarily affects the retina, leading to severe vision loss at an early age.
As of now, there are no medications specifically approved to treat LCA17. Management of the condition typically focuses on supportive care, visual aids, and special education services to assist those affected by vision impairment. Gene therapy is an area of ongoing research and holds potential for future treatments. However, such therapies are still in development or experimental stages for LCA17.
For the most up-to-date and personalized information, it's important to consult a healthcare provider or a genetic counselor. - Repurposable Drugs
- Leber Congenital Amaurosis 17 (LCA17) is a genetic disorder that causes severe vision loss at an early age. Currently, there is limited information on repurposable drugs specifically for LCA17. Research is ongoing to explore potential treatments, including gene therapy and other strategies to manage symptoms and slow disease progression. Consulting with a specialist in genetic eye disorders can provide the most up-to-date information and potential treatment options.
- Metabolites
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Leber congenital amaurosis 17 (LCA17) is a genetic disorder primarily affecting the retina, leading to severe visual impairment from birth. This condition is associated with mutations in the GUCY2D gene, which encodes guanylate cyclase-1, an enzyme essential for phototransduction in retinal photoreceptors. The disruption of guanylate cyclase-1 leads to an inability to regenerate cyclic GMP, a critical molecule for normal visual function.
In the context of LCA17, there are no specific abnormal metabolites identified in general metabolic screenings. Rather, the primary defect is limited to the retinal cells' functionality. Diagnostic efforts typically focus on genetic testing to identify mutations in the GUCY2D gene rather than metabolomic analysis. - Nutraceuticals
- Leber Congenital Amaurosis 17 (LCA17) is a rare genetic disorder that affects vision. Currently, there are no approved nutraceuticals specifically for the treatment of LCA17. Management typically focuses on genetic counseling, supportive care, and possibly participation in clinical trials.
- Peptides
- Leber congenital amaurosis 17 (LCA17) is a form of LCA associated with mutations in the gene GDF6. Peptides, specifically those that could be implicated in therapeutic strategies, are still under research for such genetic disorders. No specific peptide-based treatments have been established for LCA17 as of now. The acronym "nan" does not provide clarity in this context. If "nan" refers to a particular protein or aspect related to LCA17, please provide additional details for a more precise explanation.