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Retinitis Pigmentosa 47

Disease Details

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Description: Retinitis pigmentosa 47 is a rare genetic disorder characterized by the progressive loss of vision due to the degeneration of the retina, particularly affecting photoreceptor cells and leading to night blindness and tunnel vision.
Type: Retinitis pigmentosa 47 is a type of retinal dystrophy. It is typically inherited in an X-linked recessive manner.
Signs And Symptoms: Retinitis pigmentosa 47, like other forms of retinitis pigmentosa, primarily affects the retina and leads to progressive vision loss. The common signs and symptoms include:

1. **Night blindness (nyctalopia):** Difficulty seeing in low light or darkness, often one of the earliest symptoms.
2. **Peripheral vision loss:** Gradual constriction of the visual field, also known as tunnel vision.
3. **Photopsia:** Perception of flashes of light.
4. **Difficulty adapting to changes in lighting conditions.**
5. **Progressive central vision loss:** In advanced stages, central vision may also deteriorate, affecting tasks such as reading and recognizing faces.

These symptoms typically start in childhood or adolescence and gradually worsen over time.
Prognosis: Retinitis Pigmentosa 47 (RP47) is a subtype of retinitis pigmentosa, a group of genetic disorders that cause retinal degeneration. There isn't detailed, specific prognosis information readily available for each subtype like RP47, as it largely aligns with general RP outcomes. Generally, retinitis pigmentosa is progressive and can lead to significant vision loss over time. However, the rate of progression and severity can vary.

For precise and tailored information, consulting specialized medical literature or a geneticist may be necessary due to the variability and rarity of specific subtypes.
Onset: Retinitis pigmentosa 47 typically has an onset in childhood or adolescence.
Prevalence: Retinitis pigmentosa 47 (RP47) is one of the many genetic subtypes of retinitis pigmentosa, a group of inherited disorders that cause progressive retinal degeneration and vision loss. The prevalence of RP47, specifically, is not well-documented due to its rarity and the broad classification of retinitis pigmentosa as a whole. Retinitis pigmentosa, in general, affects approximately 1 in 4,000 to 1 in 5,000 people worldwide, but the prevalence of each specific subtype like RP47 can vary and is typically much lower.
Epidemiology: Retinitis pigmentosa 47 (RP47) is a subtype of retinitis pigmentosa, a group of genetic disorders that cause progressive retinal degeneration and vision loss. Epidemiological information specific to RP47 is limited, but retinitis pigmentosa as a whole affects approximately 1 in 4,000 people globally. RP47 is typically inherited in an autosomal recessive manner, and the mutations in the gene associated with RP47 can vary in different populations. Specific prevalence data for RP47 is lacking, as it is a rare subset within the broader category of retinitis pigmentosa.
Intractability: Retinitis Pigmentosa 47 (RP47) is currently considered intractable. There is no cure available, and the treatment options are limited to managing symptoms and slowing the progression of vision loss. Research is ongoing to find effective therapies, including gene therapy and retinal implants, but these are still in developmental stages.
Disease Severity: Retinitis pigmentosa 47 (RP47) is a subtype of retinitis pigmentosa, which is a group of genetic disorders that cause retinal degeneration and progressive vision loss. The severity of RP47 can vary, but typically it leads to night blindness, a gradual loss of peripheral vision (tunnel vision), and can eventually result in central vision loss. The progression rate and age of onset can differ among individuals. There is currently no cure, and management focuses on slowing disease progression and providing supportive care.
Healthcare Professionals: Disease Ontology ID - DOID:0110369
Pathophysiology: Retinitis pigmentosa 47 (RP47) is part of a group of genetic disorders that cause retinal degeneration. The condition is characterized by progressive loss of vision due to the degeneration of photoreceptor cells in the retina, specifically the rod and cone cells. The pathophysiology involves mutations in specific genes, such as those encoding for proteins critical to the structure and function of photoreceptors. Over time, the genetic mutations lead to cell death and the accumulation of retinal pigment deposits, ultimately resulting in symptoms such as night blindness, tunnel vision, and loss of peripheral and central vision.
Carrier Status: Retinitis pigmentosa 47 (RP47) is associated with mutations in the gene IDH3B. It is an autosomal recessive disorder, meaning that a person needs to inherit two copies of the mutated gene (one from each parent) to be affected. Carriers possess only one copy of the mutated gene and typically do not display symptoms of the disease. They can, however, pass the mutated gene to their offspring, potentially resulting in the disease if the other parent is also a carrier.
Mechanism: Retinitis pigmentosa 47 (RP47) is a genetic disorder that affects vision. The disease mechanism involves the progressive degeneration of photoreceptor cells in the retina, specifically rods and cones, leading to impaired vision and eventual blindness.

### Molecular Mechanisms:
RP47 is caused by mutations in the phosphodiesterase 6A (PDE6A) gene. PDE6A encodes for the alpha subunit of the rod photoreceptor cGMP-specific phosphodiesterase enzyme. This enzyme plays a crucial role in the phototransduction cascade by hydrolyzing cGMP, a secondary messenger involved in visual signal transduction.

1. **Mutations in PDE6A**: Mutations can lead to a functional defect in the phosphodiesterase enzyme, resulting in elevated levels of cGMP within photoreceptor cells.
2. **Elevated cGMP**: High levels of cGMP cause prolonged opening of cGMP-gated ion channels, leading to excessive influx of calcium and sodium ions.
3. **Photoreceptor Cell Death**: The ionic imbalance and cellular stress from elevated cGMP levels contribute to photoreceptor cell apoptosis, particularly affecting rod cells first and later cone cells.

The progressive loss of these photoreceptor cells leads to the characteristic symptoms of retinitis pigmentosa, such as night blindness, loss of peripheral vision, and eventually central vision loss.
Treatment: As of my latest information, there is no known cure for retinitis pigmentosa 47 (RP47). However, treatment options focus on managing symptoms and slowing disease progression. These may include:

1. **Vitamin A Palmitate**: Some studies suggest that high doses of vitamin A palmitate may slow the progression of the disease.
2. **Omega-3 Fatty Acids**: Diets rich in omega-3 fatty acids, commonly found in fish, may provide some benefit.
3. **Use of Low Vision Aids**: Tools such as magnifying glasses, night vision scopes, and other assistive devices can enhance daily functioning despite vision loss.
4. **Genetic Counseling**: For affected individuals and family members, genetic counseling can provide insights into inheritance patterns and risks for future offspring.
5. **Potential Gene Therapies**: Emerging research in gene therapy offers hope for the future, though such treatments are still largely experimental.

Regular follow-up with an ophthalmologist and a specialist in retinal diseases is recommended to monitor the progression and adapt treatments as necessary.
Compassionate Use Treatment: Retinitis pigmentosa 47 (RP47) is a genetic disorder that affects vision. For patients with RP47, treatment options are limited and mostly experimental. However, a few compassionate use treatments and off-label or experimental treatments have been explored:

1. **Gene Therapy**: This treatment aims to correct the genetic defect causing RP47. Although still largely experimental, it has shown promise in clinical trials for certain types of retinitis pigmentosa.

2. **Retinal Implants**: Devices like the Argus II Retinal Prosthesis System have been approved for compassionate use. These implants can partially restore vision by bypassing damaged photoreceptors and stimulating the remaining retinal cells.

3. **Vitamin A Supplementation**: Some studies suggest that high doses of vitamin A may slow the progression of certain forms of retinitis pigmentosa. However, this is considered off-label use and should be monitored by a healthcare provider due to potential toxicity.

4. **Stem Cell Therapy**: Experimental studies are investigating the use of stem cells to replace damaged retinal cells. While still in the research phase, initial results are promising.

Patients interested in these treatments should consult with a healthcare professional or specialist to discuss potential risks, benefits, and availability.
Lifestyle Recommendations: For Retinitis Pigmentosa 47 (RP47), lifestyle recommendations may include:

1. **Regular Eye Examinations**: Schedule regular check-ups with an ophthalmologist to monitor disease progression and update prescriptions for visual aids.

2. **Protective Eyewear**: Use sunglasses with UV protection to shield your eyes from harmful ultraviolet light which may exacerbate symptoms.

3. **Healthy Diet**: Maintain a diet rich in antioxidants, leafy greens, and fish which are beneficial for eye health.

4. **Vitamin Supplements**: Consult with a healthcare provider about supplements like Vitamin A, which some studies suggest may slow disease progression.

5. **Assistive Devices**: Employ the use of assistive devices and technologies such as magnifiers, screen readers, and other visual aids to help with daily tasks.

6. **Low Vision Rehabilitation**: Engage in training programs to adapt to vision loss, which can improve quality of life and independence.

7. **Safe Environment**: Ensure living spaces are well-lit and free from tripping hazards to prevent accidents.

8. **Exercise**: Regular physical activity can help maintain overall health and well-being.

9. **Support Networks**: Join support groups or counseling services to cope with emotional and psychological aspects of vision loss.

10. **Educate Family and Friends**: Inform loved ones about the condition so they can provide appropriate support.

It's important to discuss with a healthcare provider to tailor these recommendations to your specific situation.
Medication: Retinitis pigmentosa 47 (RP47) is one of the many forms of retinitis pigmentosa, a group of inherited disorders that cause retinal degeneration. As of now, there is no specific medication approved to cure or halt the progression of RP47. However, research is ongoing, and various treatments such as gene therapy, retinal implants, and other novel therapies are being investigated. Patients are typically advised to manage symptoms through protective measures like vitamin A supplementation, wearing UV-blocking sunglasses, and regular ophthalmic check-ups to monitor disease progression and maintain quality of life.
Repurposable Drugs: Retinitis pigmentosa 47 (RP47) is a genetic disorder that affects the retina's ability to respond to light, leading to progressive vision loss. Currently, no specific repurposable drugs have been widely accepted for RP47. However, several potential treatments and therapeutic approaches are under investigation. If you are looking for tailored medical advice or the latest research, consulting with a healthcare professional or a specialist in genetic retinal diseases is recommended.
Metabolites: For Retinitis Pigmentosa 47 (RP47), specific information on involved metabolites is not well-documented as this condition is primarily genetic. RP47 falls under the broader category of retinitis pigmentosa, characterized by progressive vision loss due to the degeneration of photoreceptor cells in the retina. Genetic mutations associated with this condition impact cellular functions, but direct links to specific metabolites are not typically the focal point of current research.
Nutraceuticals: For retinitis pigmentosa 47 (RP47), there has been interest in the potential role of nutraceuticals in managing the condition, although concrete evidence is still evolving. Nutraceuticals like vitamin A and omega-3 fatty acids have been studied to some extent for various forms of retinitis pigmentosa. However, their specific effects on RP47 have not been definitively established. More research is needed to confirm any beneficial impacts and to determine appropriate dosages and formulations.

If considering nutraceuticals, it's essential to consult a healthcare professional for personalized guidance and to avoid potential adverse effects or interactions with other treatments.
Peptides: Retinitis pigmentosa 47 (RP47) is a subtype of retinitis pigmentosa, a group of genetic disorders that cause retinal degeneration and can lead to vision loss. Peptides or nanotherapy have been explored as potential treatment options, but specific strategies would depend on the underlying genetic mutations and disease mechanisms involved in RP47. Detailed and targeted approaches would be necessary for effective treatment, and research in this area is ongoing.