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Leber Congenital Amaurosis 3

Disease Details

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Description: Leber congenital amaurosis 3 is a rare inherited retinal disorder characterized by severe vision loss at birth or in early infancy due to mutations in the retinal guanylate cyclase 1 (GUCY2D) gene.
Type: Leber congenital amaurosis 3 is an inherited retinal degenerative disorder. It follows an autosomal recessive pattern of genetic transmission.
Signs And Symptoms: Leber Congenital Amaurosis 3 (LCA3) is a rare genetic eye disorder that primarily affects the retina.

**Signs and Symptoms:**
1. **Severe visual impairment or blindness:** Present from birth or early infancy.
2. **Nystagmus:** Involuntary, rapid eye movements.
3. **Photophobia:** Sensitivity to light.
4. **Poor pupillary response:** Pupils react sluggishly or abnormally to light.
5. **Oculodigital reflex:** Pressing on the eyes with fingers, which may lead to enophthalmos (sunken eyes) and keratoconus (cone-shaped cornea).

**Note:** The severity and specific symptoms can vary between individuals.
Prognosis: Leber congenital amaurosis 3 (LCA3) is a genetic disorder that primarily affects vision. The prognosis generally includes severe visual impairment from a very young age. Patients typically experience significant vision loss in infancy or early childhood, which often progresses to complete blindness. There is currently no cure for LCA3, and management focuses on supportive measures and visual aids to optimize remaining vision. Regular follow-up with a specialist in genetic eye diseases is crucial for monitoring and support.
Onset: Leber congenital amaurosis (LCA) is a group of inherited retinal diseases that cause severe vision loss at an early age. The term "nan" seems to be an error, so I will provide general information about the onset of LCA.

LCA typically presents at birth or within the first few months of life. Patients with LCA experience significant visual impairment, nystagmus (involuntary eye movements), and sluggish or absent pupillary responses. In the context of LCA3, which refers to a specific genetic subtype of the disease associated with mutations in the SPATA7 gene, the onset and clinical features are consistent with those of the general form of LCA.

If you have any specific inquiries related to LCA3, please let me know.
Prevalence: Leber congenital amaurosis (LCA) is a rare inherited eye disorder. Specifically, LCA type 3, caused by mutations in the SPATA7 gene, is even less common. The overall prevalence of all types of LCA is estimated to be approximately 2 to 3 per 100,000 live births. The prevalence of LCA type 3 is not well-established but is significantly lower than the collective prevalence of all LCA types.
Epidemiology: Leber congenital amaurosis 3 (LCA3) is a rare inherited retinal degenerative disease. Its epidemiology includes the following points:

1. **Prevalence:** LCA as a whole is rare, affecting about 2-3 per 100,000 live births. LCA3 constitutes a small proportion of these cases.
2. **Genetics:** LCA3 is caused by mutations in the SPATA7 gene and is inherited in an autosomal recessive pattern.
3. **Geographic Distribution:** There is no specific geographic or ethnic predilection, though certain mutations may be more common in specific populations due to founder effects or consanguinity.
4. **Diagnosis:** Early diagnosis typically occurs in infancy through genetic testing, given the severe visual impairment evident from birth.

The term "nan" usually signifies "not a number" or missing data, which in this context may imply information that’s not specifically quantified or available.
Intractability: Leber congenital amaurosis (LCA) type 3 is considered intractable. Currently, there is no cure for this genetic disorder, and treatment options are largely limited to supportive measures and managing associated complications. Research is ongoing to explore potential gene therapies and other treatments.
Disease Severity: Leber congenital amaurosis 3 (LCA3) is a severe, early-onset retinal dystrophy. It typically presents in infancy with profound visual impairment or blindness, reduced or absent pupillary responses, and nystagmus (uncontrolled eye movements). The severity can vary between individuals, but it generally leads to significant visual impairment from a very young age.
Healthcare Professionals: Disease Ontology ID - DOID:0110331
Pathophysiology: Leber congenital amaurosis (LCA) is a group of rare inherited retinal dystrophies that lead to severe vision loss at an early age. LCA3, specifically, is one of the subtypes and is caused by mutations in the gene recognized as SPATA7.

### Pathophysiology:
LCA3 is characterized by significant dysfunction in the photoreceptor cells of the retina, which are crucial for converting light into visual signals. Mutations in the SPATA7 gene result in the improper functioning or loss of these photoreceptors. The gene is involved in protein interactions critical for maintaining retinal integrity and function, including processes in photoreceptor cells and the retinal pigment epithelium. The disruption of these processes leads to the degeneration of photoreceptor cells and the progressive loss of vision. This degeneration can be accompanied by other ocular abnormalities, such as sluggish pupillary responses and nystagmus (involuntary eye movement).

The onset of symptoms typically occurs in infancy or early childhood, and affected individuals often show very poor visual acuity from birth. Due to the genetic basis of this condition, it follows an autosomal recessive pattern of inheritance.

### Note:
There is no widely used abbreviation "nan" in a standard medical context for pathophysiology; if you meant a specific analysis or term not mentioned here, please clarify.
Carrier Status: Leber Congenital Amaurosis 3 (LCA3) typically follows an autosomal recessive inheritance pattern. This means that a person must inherit two mutated copies of the gene, one from each parent, to be affected by the disease. Individuals with only one mutated copy are considered carriers and usually do not exhibit symptoms of the condition.
Mechanism: Leber congenital amaurosis 3 (LCA3) is an autosomal recessive retinal dystrophy that leads to early-onset severe vision loss. The mechanism involves mutations in the gene encoding the RPE65 protein. This protein is essential for the visual cycle, particularly in the isomerization of all-trans-retinyl esters to 11-cis-retinal in the retinal pigment epithelium. Mutations disrupt the function of RPE65, leading to a deficit in 11-cis-retinal, which is crucial for phototransduction. Consequently, this impairment affects the photoreceptor cells, leading to their degeneration and resulting in the severe vision loss characteristic of LCA3. Molecular mechanisms involve loss-of-function mutations in the RPE65 gene, hindering the regeneration of visual pigments required for normal vision.
Treatment: Leber Congenital Amaurosis 3 (LCA3) is a rare genetic disease causing severe vision loss at an early age. Treatment options are currently limited and primarily supportive. Options include:

1. **Low Vision Aids:** Devices such as magnifiers and specialized visual aids to enhance remaining vision.
2. **Assistive Technology:** Use of screen readers, Braille displays, and other technology to assist daily activities.
3. **Genetic Counseling:** Provides patients and families with information on the inheritance pattern and implications of the condition.
4. **Possible Future Treatments:** Research is ongoing in gene therapy, which aims to correct the underlying genetic defect.

Nan refers to "Not a Number," which is not relevant to the treatment of LCA3. If it's an abbreviation for something else, please clarify for a more accurate response.
Compassionate Use Treatment: For Leber Congenital Amaurosis 3 (LCA3), an inherited retinal dystrophy resulting in severe vision loss, current treatment options include research into experimental and off-label therapies. Some possible areas being investigated for compassionate use or experimental treatments include:

1. **Gene Therapy:** Experimental gene therapy aims to deliver a functional copy of the defective gene, RPGRIP1, directly to the retina. Clinical trials are ongoing but not yet widely available.

2. **CRISPR-Cas9:** This gene-editing technology is being explored to correct genetic mutations directly in the DNA of retinal cells.

3. **Retinal Prostheses:** Electronic implants or "bionic eyes" may be used experimentally to restore some vision in patients with severe retinal degeneration.

4. **Stem Cell Therapy:** Research is ongoing to develop stem cell-derived retinal cells that can be transplanted into the retina to restore function.

5. **Neuroprotective Agents:** Compounds intended to protect retinal cells from degeneration are being tested in preclinical and early clinical trials.

Patients seeking access to these experimental treatments may need to participate in clinical trials or apply for compassionate use through appropriate regulatory frameworks. Always consult a medical professional for the latest information and personalized guidance.
Lifestyle Recommendations: Leber Congenital Amaurosis (LCA) is a group of inherited retinal dystrophies causing severe vision loss from an early age. Lifestyle recommendations for individuals with LCA3 might include:

1. **Regular Eye Exams**: Consistent monitoring by an ophthalmologist for retinal health.

2. **Low Vision Aids**: Use of assistive devices like magnifiers, screen readers, or Braille tools to enhance quality of life.

3. **Protective Eyewear**: Wearing sunglasses or hats to shield eyes from bright light, as LCA can make eyes more sensitive.

4. **Safe Environment**: Modifying home and work areas to prevent accidents and improve navigation.

5. **Physical Activity**: Engaging in suitable physical activities to maintain overall health, with adjustments for vision impairment.

6. **Nutritional Attention**: A well-balanced diet rich in vitamins and minerals to support general health.

7. **Support Networks**: Connecting with support groups or counseling services for emotional and social assistance.

8. **Educational Resources**: Utilizing special education programs tailored for visually impaired individuals.

Staying updated on potential treatments or clinical trials through healthcare providers may benefit those with LCA3.
Medication: As of my last update, there is no specific medication for Leber congenital amaurosis type 3 (LCA3). LCA is a group of inherited retinal dystrophies, and treatment generally focuses on supportive care and managing symptoms. Genetic counseling is recommended for affected families. Research into gene therapy and other potential treatments is ongoing. Consulting a healthcare provider for the most current management options is advisable.
Repurposable Drugs: For Leber congenital amaurosis 3 (LCA3), there are no established repurposable drugs directly targeting this specific genetic retinal disorder. The condition typically results from mutations in the RDH12 gene. While some general approaches are being investigated for inherited retinal diseases, including gene therapy, there is no widely recognized repurposable drug for LCA3 as of now. Continuing research and clinical trials may provide more insights in the future.
Metabolites: For Leber congenital amaurosis 3 (LCA3), specific metabolites typically aren't the primary focus as it's a genetic disorder primarily affecting the retina. LCA3 is caused by mutations in the SPATA7 gene. The disease primarily impairs photoreceptor cells and leads to severe vision loss from an early age. As a genetically inherited retinal dystrophy, it may not be characterized by abnormalities in specific metabolites in blood or other tissues which are often the primary focus in metabolic disorders. However, comprehensive metabolic profiling in research could potentially uncover any secondary metabolite changes associated with this genetic disorder.
Nutraceuticals: For Leber Congenital Amaurosis 3 (LCA3), there are currently no established nutraceuticals specifically recommended for treatment. LCA3 is a genetic disorder affecting vision, and management primarily focuses on genetic counseling and supportive care. Always consult healthcare professionals for personalized recommendations and emerging therapies.
Peptides: Leber congenital amaurosis type 3 (LCA3) is a rare inherited retinal degenerative disease that leads to severe vision loss or blindness at birth or in early infancy. It is caused by mutations in the gene SPATA7. There is no specific information available about "peptides, nan" in the context of LCA3 treatment or research. Further details or clarification would be needed to address specific inquiries regarding peptides or nanotechnology related to LCA3.