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Leber Congenital Amaurosis 11

Disease Details

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Description: Leber congenital amaurosis 11 (LCA11) is a rare genetic disorder causing severe vision impairment from birth due to mutations in the CEP290 gene.
Type: Leber congenital amaurosis 11 (LCA11) is typically transmitted in an autosomal recessive manner.
Signs And Symptoms: Leber congenital amaurosis 11 (LCA11) is a genetic disorder that primarily affects vision. Here are the signs and symptoms:

- Severe visual impairment or blindness evident from infancy
- Poor pupillary light reflex
- Nystagmus (involuntary eye movement)
- Photophobia (sensitivity to light)
- Abnormal eye movements
- Lack of visual tracking
- Retinal degeneration

These symptoms are often present at birth or occur in early infancy.
Prognosis: Leber congenital amaurosis (LCA) 11 typically presents with severe vision impairment from birth or early infancy. The prognosis for individuals with LCA 11 generally involves significant visual loss which remains stable or progresses slowly over time. Although there is currently no cure, gene therapy and other treatments are being researched, offering some hope for future interventions.
Onset: Leber congenital amaurosis type 11 (LCA11) typically presents with onset in infancy or early childhood. Symptoms often include severe visual impairment or blindness from a very young age.
Prevalence: Leber congenital amaurosis (LCA) is a rare genetic disorder, and its specific type, LCA11, is also considered rare. The prevalence of LCA overall is estimated to be between 2 to 3 per 100,000 live births. However, specific prevalence data for LCA11 is not well-defined due to its rarity and the variability in mutation rates across different populations.
Epidemiology: Leber congenital amaurosis 11 (LCA11) is a rare inherited retinal dystrophy, representing one form of the broader Leber congenital amaurosis condition. Epidemiologically, LCA affects approximately 2 to 3 per 100,000 newborns, with LCA11 being one of the various genetic subtypes.

LCA11 specifically results from mutations in the IMPDH1 gene. It is inherited in an autosomal recessive manner, meaning two copies of the mutated gene are required for the condition to manifest.
Intractability: Leber congenital amaurosis 11 (LCA11) is currently considered intractable in the sense that there is no definitive cure. However, advancements in genetic research and experimental treatments, such as gene therapy, are being explored to manage and potentially improve the condition.
Disease Severity: Leber congenital amaurosis 11 (LCA11) is a severe, early-onset retinal dystrophy. Individuals with LCA11 typically experience significant visual impairment or blindness from a very young age. The disease severely affects the ability of the retina to respond to light, leading to profound visual deficits.
Healthcare Professionals: Disease Ontology ID - DOID:0110216
Pathophysiology: Leber congenital amaurosis 11 (LCA11) is a genetic disorder affecting vision. It is caused by mutations in the RDH12 gene, which encodes an enzyme involved in the visual cycle of the retina. The enzyme's primary role is in the regeneration of 11-cis-retinol, a critical component in photoreceptor function. Mutations in RDH12 lead to the accumulation of toxic by-products, resulting in progressive photoreceptor degeneration and severe early-onset vision loss.
Carrier Status: Leber congenital amaurosis 11 (LCA11) is a genetic disorder primarily affecting vision, caused by mutations in the RDH12 gene. Carrier status for LCA11 would imply that an individual has one mutated copy of the RDH12 gene and one normal copy. Carriers typically do not exhibit symptoms of the disease but can pass the mutated gene to their offspring.
Mechanism: Leber congenital amaurosis 11 (LCA11) is primarily caused by mutations in the RDH12 gene. The RDH12 gene encodes a protein that is involved in the visual cycle, particularly in the retina where it assists in the conversion of all-trans-retinal to all-trans-retinol. These reactions are crucial for the normal functioning and recycling of visual pigments.

Molecular mechanisms:
1. **Enzymatic Dysfunction**: RDH12 functions as a retinol dehydrogenase, crucial for the reduction of all-trans-retinal to all-trans-retinol, a key step in the retinoid cycle of the visual process.
2. **Accumulation of Toxic Retinal**: Mutations in RDH12 lead to a loss of function or reduced enzymatic activity, preventing proper conversion. This results in the accumulation of toxic all-trans-retinal, which can lead to photoreceptor cell damage and death.
3. **Oxidative Stress**: The defective RDH12 enzyme may also reduce the endogenous antioxidant defenses in the retina, increasing susceptibility to oxidative stress and contributing further to retinal degeneration.

Overall, mutations in the RDH12 gene disrupt critical processes in the visual cycle, leading to the progressive retinal degeneration seen in LCA11.
Treatment: Leber congenital amaurosis 11 (LCA11) is a subtype of Leber congenital amaurosis, a genetic disorder causing severe vision loss at an early age. Treatment options are primarily investigational and supportive. Recent advancements include gene therapy, which aims to address the underlying genetic defects. However, such treatments are still under research and clinical trials. Supportive treatments may include low vision aids, visual rehabilitation, and educational support to help manage the condition.
Compassionate Use Treatment: Leber Congenital Amaurosis 11 (LCA11) lacks a specific approved treatment. Compassionate use treatment may involve investigational gene therapies or other experimental treatments through clinical trials. Off-label treatments are not well-documented due to the specificity and rarity of the condition. Participation in clinical trials or experimental therapy programs may provide access to new or investigational treatments, such as gene therapy targeting the CEP290 gene mutation involved in LCA11.
Lifestyle Recommendations: Leber congenital amaurosis 11 (LCA11) is a genetic disorder that primarily affects vision. Lifestyle recommendations for individuals with LCA11 include:

1. **Regular Eye Exams**: Routine check-ups with an ophthalmologist to monitor vision and eye health.
2. **Adaptive Aids**: Utilizing visual aids, such as magnifiers, screen readers, and Braille materials, can assist with daily activities.
3. **Safe Environment**: Creating a safe home environment by minimizing obstacles and enhancing lighting to reduce the risk of accidents.
4. **Specialized Education**: Accessing specialized educational programs and resources for the visually impaired.
5. **Support Networks**: Engaging with support groups and counseling services can provide emotional and practical support.
6. **Physical Activity**: Encouraging activities that are safe and enjoyable, keeping in mind any spatial limitations.
7. **Healthy Lifestyle**: Maintaining a balanced diet and overall healthy living to support general well-being.
Medication: For Leber Congenital Amaurosis 11 (LCA11), there are currently no specific medications approved to treat the disease. However, treatment generally focuses on managing symptoms and may include supportive measures such as the use of low vision aids. Research is ongoing to find potential therapies, including gene therapy. Consulting with a healthcare professional or genetic counselor for the latest information and management options is advisable.
Repurposable Drugs: Currently, there are no well-established repurposable drugs specifically for Leber Congenital Amaurosis 11 (LCA11). LCA11 is a genetic condition caused by mutations in the RDH12 gene, leading to severe vision impairment from infancy. Most of the ongoing research focuses on gene therapy and other targeted treatments.
Metabolites: For Leber congenital amaurosis 11 (LCA11), specific details related to metabolites might not be well-documented in the context of routine clinical practice or widely available literature. LCA11 is primarily a genetic disorder resulting from mutations in the CRB1 gene, affecting the development and function of photoreceptors in the retina, leading to early-onset vision loss.

Currently, there is limited information on specific metabolites directly associated with LCA11. The focus of research and treatment typically centers on gene therapy and retinal cell survival rather than metabolic profiling.
Nutraceuticals: Leber congenital amaurosis 11 (LCA11) is a rare genetic disorder affecting the retina and leading to severe vision loss at an early age. Nutraceuticals specifically targeting LCA11 have not been well-established, and there is limited evidence supporting their efficacy. The focus for LCA11 management is typically on genetic therapies and supportive care rather than nutraceuticals. Always consult healthcare providers for personalized treatment plans.
Peptides: For Leber Congenital Amaurosis 11 (LCA11), gene therapy using adeno-associated virus-based vectors expressing the correct form of the CEP290 gene has been under study. Studies on peptide-based therapies specifically for LCA11 are limited. Nanotechnology approaches, such as nanoparticle-mediated gene delivery systems, are being explored but are not yet established treatments for LCA11.