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Retinitis Pigmentosa 35

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Description: Retinitis Pigmentosa 35 (RP35) is a rare genetic disorder characterized by progressive loss of vision due to the degeneration of the retina.
Type: Retinitis pigmentosa 35 is a type of genetic disorder that affects the eyes. Its type of genetic transmission is autosomal recessive.
Signs And Symptoms: Retinitis Pigmentosa 35 is a genetic disorder that affects the eyes.

### Signs and Symptoms
- **Night blindness:** Difficulty seeing in low light or darkness is often one of the earliest symptoms.
- **Tunnel vision:** Progressive loss of peripheral vision, leading to a narrow field of vision.
- **Photophobia:** Increased sensitivity to light.
- **Difficulty with color discrimination:** Problems distinguishing colors.
- **Slow adaptation:** Difficulty adjusting from bright to dim environments.
- **Blurry vision:** Progressive central vision loss may eventually occur.

Note: Symptoms and their progression can vary between individuals.
Prognosis: Retinitis pigmentosa 35 (RP35) is a type of inherited retinal dystrophy. The prognosis for individuals with RP35 can vary based on the specific genetic mutations and the severity of the condition. Generally, RP35 leads to a gradual decline in vision due to progressive degeneration of the rod and cone photoreceptors in the retina. Night blindness is often one of the first symptoms, followed by peripheral vision loss, and eventually central vision may also be affected. There is currently no cure, but supportive therapies, visual aids, and, in some cases, gene therapies may help manage the symptoms and improve quality of life.
Onset: Retinitis Pigmentosa 35 (RP35) is a form of retinitis pigmentosa, a group of inherited retinal dystrophies. Onset typically occurs in early childhood to adolescence, but the exact age can vary. It is characterized by progressive vision loss, beginning with night blindness and followed by peripheral vision loss.
Prevalence: The prevalence of Retinitis Pigmentosa 35 (RP35) specifically is not well-documented. Retinitis Pigmentosa as a broader category affects about 1 in 4,000 to 1 in 5,000 people globally.
Epidemiology: Retinitis pigmentosa 35 (RP35) is a rare genetic disorder characterized by the progressive degeneration of the retina, leading to vision loss. It belongs to a broader group of related inherited retinal dystrophies collectively known as retinitis pigmentosa. The exact prevalence of RP35 is difficult to determine due to its rarity and the fact that it is just one subtype of the broader retinitis pigmentosa category. Generally, retinitis pigmentosa as a whole affects approximately 1 in 4,000 individuals worldwide.

The mode of inheritance for RP35 can vary. It may be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern, although specific details for RP35 might point more commonly to one form over another based on genetic studies specific to this subtype.

Since epidemiological data specific to RP35 is limited, more extensive research and genetic analysis are often needed for clearer insights into its prevalence and demographic distribution.
Intractability: Retinitis pigmentosa 35 (RP35) is a form of retinitis pigmentosa, which is a group of genetic disorders that cause progressive degeneration of the retina, leading to vision loss. Currently, there is no cure for RP35, making it intractable in that sense. However, research is ongoing to find treatments and potential cures. Gene therapy, retinal implants, and other innovative approaches are being explored to manage symptoms and improve the quality of life for those affected.
Disease Severity: Retinitis pigmentosa 35 is a form of retinitis pigmentosa, a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina. Disease severity can vary among individuals, but generally, it is a progressive condition that starts with night blindness and peripheral vision loss and can eventually lead to central vision loss. "Nan" typically refers to a specific genetic mutation or context that is not clear from the information given. The severity and progression can depend on the specific genetic mutation involved.
Healthcare Professionals: Disease Ontology ID - DOID:0110357
Pathophysiology: Retinitis Pigmentosa 35 is a type of retinitis pigmentosa, a group of inherited retinal dystrophies characterized by progressive peripheral vision loss and night vision difficulties. The pathophysiology involves degenerative changes mainly in the retinal photoreceptors and the retinal pigment epithelium. Over time, this leads to the characteristic symptoms and progressive vision loss seen in the disease. The specific genetic mutations associated with Retinitis Pigmentosa 35 typically impact proteins essential for photoreceptor function and survival, leading to their gradual dysfunction and apoptosis.
Carrier Status: Retinitis pigmentosa 35 is a genetic disorder that leads to progressive vision loss due to the degeneration of the retina. This particular form of retinitis pigmentosa is typically inherited in an autosomal recessive manner. To be a carrier of retinitis pigmentosa 35, an individual must have one copy of the mutated gene, but carriers typically do not exhibit symptoms of the disease. The carrier status can be confirmed through genetic testing.
Mechanism: Retinitis pigmentosa 35 (RP35) is a form of retinitis pigmentosa, a group of inherited retinal dystrophies characterized by progressive peripheral vision loss and night blindness. The specific mechanisms for RP35 involve genetic mutations that affect retinal photoreceptors and the retinal pigment epithelium.

**Mechanism:**
RP35 specifically is caused by mutations in the SNRNP200 gene. This gene encodes a component of the U4/U6-U5 tri-snRNP in the spliceosome, which is essential for pre-mRNA splicing. The mutations disrupt the normal functioning of the splicing machinery, leading to defects in mRNA processing and subsequent cellular dysfunction in the retina.

**Molecular Mechanisms:**
1. **Mutation Impact on SNRNP200**: Mutations typically alter the structure or function of the SNRNP200 protein, which impairs splicing. The precise consequence of these alterations can vary, but common outcomes include aberrant splicing of many transcripts, which compromises cellular homeostasis.

2. **Photoreceptor Degeneration**: Dysfunction in the splicing machinery due to SNRNP200 mutations leads to a buildup of misprocessed RNAs in photoreceptor cells. These accumulated defective RNAs contribute to cellular stress, triggering apoptotic pathways and leading to photoreceptor cell death.

3. **Retinal Homeostasis Disruption**: Besides photoreceptors, the health of supporting retinal cells may also be impacted, further contributing to the degeneration process. With persistent cell death and disruption of retinal architecture, vision diminishes progressively.

4. **Protein Misfolding and Aggregation**: Some mutations may lead to misfolding and aggregation of the SNRNP200 protein itself, which can form cytotoxic aggregates that further impair cell function.

Overall, the combination of defective mRNA splicing, photoreceptor cell death, and disrupted retinal homeostasis culminates in the clinical manifestations of RP35.
Treatment: Retinitis pigmentosa 35 (RP35) is one of the subtypes of retinitis pigmentosa, a group of genetic disorders that cause progressive vision loss.

As of now, there is no definitive cure for RP35. However, there are several treatment approaches aimed at managing the symptoms and slowing disease progression:

1. **Nutritional Supplements**: Some studies suggest that certain vitamins and supplements, such as vitamin A palmitate, can slow the progression of retinitis pigmentosa.
2. **Gene Therapy**: Research is ongoing in gene therapy, which aims to correct the genetic defects that cause RP35. Clinical trials are in progress.
3. **Retinal Implants**: Devices like the Argus II retinal prosthesis can provide some visual aid to people with severe vision loss due to retinitis pigmentosa.
4. **Vision Aids**: Visual aids, such as magnifying glasses and night vision goggles, can help manage daily activities.
5. **Low Vision Rehabilitation**: Therapy and training aimed at making the most of remaining vision can improve quality of life.
6. **Stem Cell Therapy**: Experimental treatments using stem cells are being researched and show potential in restoring some vision.

It's important for patients with RP35 to have regular follow-up appointments with an ophthalmologist to monitor the progression of the disease and receive the latest information on new treatments and clinical trials.
Compassionate Use Treatment: Retinitis Pigmentosa 35 (RP35) is a form of retinitis pigmentosa, a group of genetic disorders that result in progressive retinal degeneration and vision loss. When standard treatments are not effective or available, some potential compassionate use treatments and off-label or experimental options may include:

1. **Gene Therapy**: Experimental gene therapy trials aim to replace or correct the defective gene responsible for RP35. For example, Luxturna (voretigene neparvovec) has been approved for a different type of RP and similar approaches are being explored for other variants.

2. **Nutritional Supplements**: High-dose vitamin A palmitate has been used off-label with some evidence suggesting it may slow the progression of certain forms of RP. However, the effectiveness and safety can vary.

3. **Stem Cell Therapy**: Experimental stem cell therapies are being investigated to regenerate or repair retinal cells. These therapies are in various phases of clinical trials and are not yet widely available.

4. **Neuroprotective Agents**: Medications like N-acetylcysteine (NAC) are being studied for their potential to slow retinal degeneration by protecting photoreceptor cells.

5. **Retinal Implants**: Devices such as the Argus II Retinal Prosthesis System (bionic eye) have been used in advanced cases to restore some visual function by bypassing damaged photoreceptors.

6. **CRISPR/Cas9 Gene Editing**: This experimental approach involves correcting genetic mutations at the DNA level and is in early-stage research for its applicability to RP.

Individuals interested in these options should participate in clinical trials or seek compassionate use access through their healthcare provider. It is essential to consult with an ophthalmologist or a genetic counselor specialized in retinal diseases to explore these avenues.
Lifestyle Recommendations: ### Lifestyle Recommendations for Retinitis Pigmentosa 35 (RP35):

1. **Regular Eye Exams:**
- Schedule regular check-ups with an ophthalmologist to monitor the progression of the disease.

2. **Protective Eyewear:**
- Use sunglasses or photochromic lenses to protect eyes from UV and bright light, which may help in reducing photophobia and potential light-induced damage.

3. **Healthy Diet:**
- Maintain a diet rich in antioxidants (e.g., vitamins A, C, E, and beta-carotene) and omega-3 fatty acids, which may support overall eye health.

4. **Exercise:**
- Engage in regular physical activity to promote overall well-being, though there is no specific evidence that exercise directly affects RP35 progression.

5. **Assistive Devices:**
- Utilize low-vision aids like magnifying lenses, screen readers, and text-to-speech software to help with daily tasks.

6. **Avoid Smoking:**
- Smoking cessation is crucial as it can exacerbate oxidative stress and may affect overall eye health.

7. **Genetic Counseling:**
- Consult with a genetic counselor to understand the hereditary aspects and potential implications for family planning.

8. **Stay Informed:**
- Keep informed about new research, potential treatments, and support groups that provide education and emotional support.

These lifestyle recommendations focus on managing symptoms, supporting overall eye health, and maintaining quality of life.
Medication: Retinitis pigmentosa 35 (RP35) is a genetic disorder characterized by progressive vision loss. As of now, there is no cure or universally effective medication for RP35. Treatment primarily focuses on managing symptoms and slowing the disease progression. Patients are often advised to take high-dose vitamin A palmitate supplements, although this should be done under medical supervision to avoid toxicity. Additionally, the use of low-vision aids and participation in clinical trials exploring gene therapy and other experimental treatments may be recommended. Regular follow-ups with an ophthalmologist specializing in retinal diseases are crucial.
Repurposable Drugs: For Retinitis Pigmentosa 35 (RP35), no specific repurposable drugs have been universally established as effective treatments. Research and clinical trials are ongoing to explore potential therapies and repurposable drugs that can alleviate symptoms or slow progression. It's essential to consult with a healthcare professional for the most current and personalized treatment options.
Metabolites: There is no specific information or recognized disease entity associated with "retinitis pigmentosa 35" in current medical literature. Retinitis pigmentosa (RP) is a group of genetic disorders that result in retinal degeneration and vision loss. The term "35" seems to require more context for proper interpretation.

Metabolites related to retinitis pigmentosa, in general, may involve disruptions in the normal functioning of the retinal cells, including abnormal photoreceptor metabolism. Comprehensive metabolic profiling and genetic tests are often used to understand the precise metabolic pathways affected in different variants of retinitis pigmentosa.

If "retinitis pigmentosa 35" refers to a novel or specific subtype, it would be essential to look up recent genetic research or consult a medical professional for the most detailed and current information.
Nutraceuticals: Retinitis pigmentosa 35 is a subtype of retinitis pigmentosa, which is a group of genetic disorders that cause progressive peripheral vision loss and night vision difficulties, leading to central vision loss. Nutraceuticals such as vitamin A, DHA (docosahexaenoic acid), and lutein have been studied for their potential benefits in slowing the progression of retinitis pigmentosa, though their effectiveness can vary. There is no cure for the condition, and these supplements are not a substitute for professional medical advice and treatment.
Peptides: Retinitis pigmentosa 35 (RP35) is a specific form of retinitis pigmentosa, a group of genetic disorders that cause progressive degeneration of the retina. While treatment options are limited, emerging therapies and research are exploring various possibilities:

Peptides: Research in peptide-based therapies for retinitis pigmentosa is ongoing. These peptides may have potential in protecting retinal cells or slowing the degeneration process, although clinical applications are still under investigation.

Nanotechnology: Nanotechnology offers promising avenues for delivering drugs or genetic material directly to retinal cells. Nanoparticles can be engineered to cross biological barriers, target specific cells, and release therapeutic agents in a controlled manner, potentially improving the effectiveness of treatments for RP35.

Currently, no definitive peptide or nanotechnology-based treatments have been established for retinitis pigmentosa 35, but these areas remain active fields of research.