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Leber Congenital Amaurosis 12

Disease Details

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Description: Leber congenital amaurosis 12 (LCA12) is a rare genetic disorder causing severe vision loss or blindness from birth, due to mutations in the RD3 gene affecting retinal function.
Type: Leber congenital amaurosis 12 (LCA12) is an autosomal recessive disorder.
Signs And Symptoms: Leber Congenital Amaurosis 12 (LCA12) is a genetic disorder that primarily affects vision. Here are the main signs and symptoms:

- Severe visual impairment or blindness from birth or early infancy.
- Nystagmus, which is involuntary eye movement.
- Photophobia, or sensitivity to light.
- Poor pupillary light reflex, where the pupils have limited reaction to light.
- Hyperopia, or farsightedness.
- In some cases, developmental delays may be observed.

This rare condition is caused by mutations in the genes associated with retinal function, affecting the eyes' ability to convert light into neural signals.
Prognosis: Leber congenital amaurosis 12 (LCA12) is a genetic disorder causing severe vision loss from birth. The prognosis includes significant, lifelong visual impairment that does not typically improve over time. However, progression to total blindness is uncommon. Advances in gene therapy are promising but still under study. Supportive measures like visual aids and educational resources can help enhance quality of life.
Onset: Leber congenital amaurosis 12 (LCA12) typically has an onset in early infancy. Neonates may present with severe visual impairment or blindness often noticeable in the first few months of life.
Prevalence: Leber congenital amaurosis 12 (LCA12) is a rare genetic disorder. The exact prevalence of LCA12 is not clearly defined, but Leber congenital amaurosis as a whole is estimated to affect 2 to 3 per 100,000 newborns.
Epidemiology: Leber Congenital Amaurosis (LCA) 12 is a rare genetic disorder that affects the retina and is present from birth. The exact prevalence is not well-defined, but LCA as a whole is estimated to occur in 2 to 3 per 100,000 live births. It accounts for about 5% of all retinal dystrophies and 20% of children attending schools for the blind.

Regarding the specific mutation types and exact prevalence of LCA 12 variant are lesser-known due to its rarity. Like other forms of LCA, LCA 12 typically follows an autosomal recessive inheritance pattern.
Intractability: Leber congenital amaurosis (LCA) is generally considered intractable with current treatment options. LCA12, which is one form of this disease caused by mutations in the CEP290 gene, leads to severe vision loss from a very early age. While gene therapy, notably Luxturna for LCA2, has shown promise for other types of LCA, no specific, widely-available gene therapy currently exists for LCA12. Research is ongoing to find effective treatments.
Disease Severity: Leber congenital amaurosis 12 (LCA12) is a severe and early-onset retinal dystrophy. It typically presents in infancy with profound visual impairment or blindness. The condition is noted for its progressive nature, often leading to a significant reduction in vision over time.
Healthcare Professionals: Disease Ontology ID - DOID:0110080
Pathophysiology: Leber Congenital Amaurosis 12 (LCA12) is a subtype of Leber Congenital Amaurosis, an autosomal recessive disorder that leads to severe vision loss or blindness at birth or in early infancy. LCA12 is specifically caused by mutations in the RD3 gene.

**Pathophysiology:**
The RD3 gene encodes a protein essential for the function and stability of guanylate cyclase-activating proteins (GCAPs). These proteins play a crucial role in the phototransduction pathway, which is the process by which light is converted into electrical signals in the retina. Mutations in the RD3 gene disrupt the normal function of these proteins, leading to impaired phototransduction and, ultimately, the degeneration of photoreceptor cells in the retina. This degeneration is the primary cause of the early and severe vision loss characteristic of LCA12.
Carrier Status: Leber Congenital Amaurosis 12 (LCA12) is inherited in an autosomal recessive manner. Carrier status indicates that an individual carries one copy of the mutated gene associated with the disorder but does not typically exhibit symptoms. Two carriers have a 25% chance with each pregnancy to have a child affected by LCA12.
Mechanism: Leber congenital amaurosis 12 (LCA12) is a form of Leber congenital amaurosis, a genetic disorder causing severe vision impairment at birth. LCA12 specifically is associated with mutations in the CRB1 gene.

**Mechanism:**
The primary mechanism involves the mutation of the CRB1 gene, which plays a critical role in maintaining the structure and function of the retina. Mutations in this gene disrupt normal retinal development and function, leading to early-onset vision loss.

**Molecular mechanisms:**
The CRB1 gene encodes a protein that is crucial for photoreceptor morphogenesis. This protein is part of a complex that maintains the adhesion between photoreceptors and Müller cells, ensuring the proper layering and structure of the retina. Mutations in CRB1 result in the disorganization of retinal cells, impaired photoreceptor function, and eventually photoreceptor cell death, culminating in severe visual impairment or blindness.
Treatment: Leber congenital amaurosis (LCA) type 12 (LCA12) is a genetic disorder that affects vision from a young age. It is caused by mutations in the CRB1 gene. Currently, there is no cure for LCA12, but several approaches are being researched, including gene therapy.

Patients may benefit from supportive treatments such as low vision aids, special education programs, and occupational therapy to manage the condition. Regular follow-ups with an ophthalmologist are important for monitoring any changes in vision and overall eye health.

For the latest information about experimental treatments or clinical trials, consulting a specialist or referring to recent medical literature is recommended.
Compassionate Use Treatment: Leber congenital amaurosis 12 (LCA12) is a rare genetic disorder causing severe vision loss at an early age. For compassionate use and experimental treatments:

1. **Gene Therapy**: Although primarily associated with RPE65 mutations (like Luxturna), research is ongoing to develop gene therapies targeting other mutations including those causing LCA12 (CEP290 mutations).

2. **CEP290-targeted treatments**:
- **CEP290 Splice-Modulating Oligonucleotides**: Experimental therapies like QR-110 (sepofarsen) are being investigated to correct the splicing defects caused by CEP290 mutations.

3. **CRISPR/Cas9 Gene Editing**: Currently under experimental stages, this approach aims to directly edit the genetic mutations in CEP290.

4. **Retinal Prostheses**: Implantable devices might be considered in the future for vision restoration, though they are not yet specific to LCA12.

5. **Pharmacological Therapy**: Currently few options, but future pharmacological agents aimed at modulating the underlying genetic defects or protein function are of interest.

These treatments are mostly in clinical trial stages and would require approval and access through compassionate use programs or clinical trials. It's important for patients to consult with their healthcare providers to explore these options.
Lifestyle Recommendations: For individuals with Leber Congenital Amaurosis 12 (LCA12), important lifestyle recommendations include:

1. **Regular Eye Examinations**: Ensure frequent visits to an ophthalmologist to monitor vision and detect any changes.
2. **Vitamin Supplementation**: Consult with healthcare providers regarding potential benefits from specific vitamin supplements such as Vitamin A.
3. **Low Vision Aids**: Utilize magnifying glasses, screen readers, and other assistive technologies to enhance daily living.
4. **Home Safety Modifications**: Adapt living spaces to reduce tripping hazards and improve navigation, such as using tactile markers and adequate lighting.
5. **Support Networks**: Engage with support groups and counseling services to cope with the emotional impact of visual impairment.
6. **Physical Activity**: Encourage safe and appropriate exercise to maintain overall health and well-being.
7. **Educational Resources**: Leverage specialized educational services and resources to support learning and development for affected children.

Always seek personalized advice from healthcare professionals.
Medication: Currently, there is no specific, widely approved medication for Leber Congenital Amaurosis 12 (LCA12). However, management typically involves supportive treatments such as vision aids and educational support. Genetic counseling is recommended for affected families. Research is ongoing, and experimental therapies, including gene therapy, are being investigated.
Repurposable Drugs: Leber Congenital Amaurosis 12, caused by mutations in the RDH12 gene, does not currently have specific repurposable drugs identified for treatment. Research is ongoing to explore potential therapies, including gene therapy, but as of now, standard pharmacological treatments are not established.
Metabolites: Leber congenital amaurosis 12 (LCA12) does not have specific metabolites that are universally associated with it. LCA12 is a genetic disorder primarily affecting the retina, leading to early-onset vision loss. It is typically caused by mutations in the gene encoding for proteins critical to retinal function. As such, there are no particular metabolites used as biomarkers for diagnosis or monitoring the condition.
Nutraceuticals: As of my latest knowledge, there are no established nutraceutical treatments specifically for Leber congenital amaurosis 12 (LCA12). LCA12 is a genetic disorder often caused by mutations in the CRX gene, leading to severe vision impairment or blindness from birth. Treatment usually focuses on managing symptoms and providing supportive care, rather than a cure. Research is ongoing, and potential treatments like gene therapy are being explored, but nutraceuticals have not been shown to be effective for this particular condition.
Peptides: For Leber congenital amaurosis 12 (LCA12), peptides refer to short chains of amino acids that might be used in research or treatment strategies aimed at addressing the specific genetic mutations associated with the condition. As for nanotechnology, "nan" typically relates to nanomedicine, which may involve using nanoparticles for targeted drug delivery or gene therapy to treat retinal diseases like LCA12.