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Retinal Cancer

Disease Details

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Description: Retinal cancer is an abnormal growth of cells in the retina, the light-sensitive tissue at the back of the eye, commonly manifesting as retinoblastoma in children.
Type: Retinal cancer, specifically retinoblastoma, is a type of eye cancer that typically affects young children. The genetic transmission of retinoblastoma can be hereditary or non-hereditary. The hereditary form follows an autosomal dominant pattern, meaning a single copy of the mutated gene (RB1 gene) from an affected parent is sufficient to increase the risk of developing the condition.
Signs And Symptoms: Retinoblastoma is the most intrusive intraocular cancer among children. The chance of survival and preservation of the eye depends fully on the severity. Retinoblastoma is extremely rare as there are only about 200 to 300 cases every year in the United States. Globally, only 1 in about 15,000 children have this malignancy, though rates continue to increase.Intraocular malignancies are relatively more frequently treated than extraocular malignancies, likely due to a relatively earlier detection and subsequent treatment. Pediatricians may screen infants with annual vision tests, in which anomalies can be detected. During a red reflex test, light from an ophthalmoscope goes through transparent parts of the eye and reflects off the ocular fundus. If retinoblastoma is present, it may partially or fully impede light transversing this path. This may result in an abnormal red reflex or leucocoria, which can be a common indicator of retinoblastoma (when light is reflected by the tumor, the regular view of the red retina is blocked). The retinoblastoma may be visible as a whitish, translucent mass. If the tumor has not spread and is contained within the eye, chances of successful treatment are favorable. If initial signs are ignored or diagnosis is significantly delayed, outcomes and prognosis worsen. The effects of retinoblastoma may spread outside the eye, sometimes resulting in proptosis. Retinoblastoma that has spread may be significantly more difficult to treat. The most common and obvious sign of retinoblastoma is an abnormal appearance of the retina as viewed through the pupil, the medical term for which is leukocoria, also known as amaurotic cat's eye reflex. Other signs and symptoms include deterioration of vision, a red and irritated eye with glaucoma, and faltering growth or delayed development. Some children with retinoblastoma can develop a squint, commonly referred to as "cross-eyed" or "wall-eyed" (strabismus). Retinoblastoma presents with advanced disease in developing countries and eye enlargement is a common finding.Depending on the position of the tumors, they may be visible during a simple eye examination using an ophthalmoscope to look through the pupil. A positive diagnosis is usually made only with an examination under anesthetic (EUA). A white eye reflection is not always a positive indication of retinoblastoma and can be caused by light being reflected badly or by other conditions such as Coats' disease.The presence of the photographic fault red eye in only one eye and not in the other may be a sign of retinoblastoma. A clearer sign is "white eye" or "cat's eye" (leukocoria).
Prognosis: In the developed world, retinoblastoma has one of the best cure rates of all childhood cancers (95-98%), with more than 90% of sufferers surviving into adulthood. In the UK, around 40 to 50 new cases are diagnosed each year. Good prognosis depends upon early presentation of the child in health facility. Late presentation is associated with a poor prognosis. Survivors of hereditary retinoblastoma have a higher risk of developing other cancers later in life.
Onset: Retinal cancer, specifically retinoblastoma, typically manifests in early childhood, often before the age of 5. It is a rare form of eye cancer that originates in the retina. The disease can be sporadic or hereditary, with hereditary cases usually developing earlier. Early detection and treatment are crucial for preserving vision and preventing the spread of the cancer.
Prevalence: The prevalence of retinal cancer, particularly retinoblastoma, is approximately 1 in 15,000 to 20,000 live births. This type of cancer is most commonly diagnosed in children under the age of five.
Epidemiology: Retinoblastoma presents with cumulative lifetime incidence rate of one case of retinoblastoma per 18000 to 30000 live births worldwide. A higher incidence is noted in developing countries, which has been attributed to lower socioeconomic status and the presence of human papilloma virus sequences in the retinoblastoma tissue.Almost 80% of children with retinoblastoma are diagnosed before three years of age and diagnosis in children above six years of age is extremely rare. In the UK, bilateral cases usually present within 14 to 16 months, while diagnosis of unilateral cases peaks between 24 and 30 months.
Intractability: Retinal cancer, primarily retinoblastoma in children, is not typically intractable. With early diagnosis and appropriate treatment, such as chemotherapy, radiation, and sometimes surgery, many patients can achieve remission. Advanced cases or delays in treatment, however, can complicate management and outcomes.
Disease Severity: Retinal cancer, most commonly referred to as retinoblastoma, is a severe and potentially life-threatening disease primarily affecting young children. The severity of the disease depends on factors such as the size and location of the tumor, whether it has spread beyond the retina, and the timeliness of the diagnosis and treatment. Prompt and appropriate medical intervention is crucial in improving outcomes and preserving vision.
Healthcare Professionals: Disease Ontology ID - DOID:4645
Pathophysiology: Retinal cancer, primarily referring to retinoblastoma, involves the uncontrolled growth of immature retinal cells. This malignancy typically arises from a mutation in the RB1 gene located on chromosome 13, leading to a loss of function in the retinoblastoma protein (pRB). The pRB normally regulates cell cycle progression, and its malfunction results in unregulated cell division and tumor formation in the retina. Early detection is crucial for effective treatment, which may include enucleation, chemotherapy, radiation therapy, or local treatments like laser photocoagulation.
Carrier Status: Retinal cancer, most commonly retinoblastoma, is typically not associated with a carrier status. It is usually caused by mutations in the RB1 gene. Individuals with a germline mutation in the RB1 gene can pass the mutation to their offspring, increasing the risk of developing the cancer. However, "carrier status" isn't a term generally used in the context of retinoblastoma.
Mechanism: Retinal cancer, most commonly retinoblastoma, is a malignancy that arises from the retinal cells in the eye.

### Mechanism
Retinoblastoma typically develops from the immature cells of the retina, the light-detecting tissue of the eye. The cancer can be unilateral (one eye) or bilateral (both eyes). It is most common in children and can be hereditary or non-hereditary.

### Molecular Mechanisms
The primary molecular mechanism involves mutations in the RB1 gene (Retinoblastoma 1 gene), which plays a critical role in cell cycle regulation. The RB1 gene is a tumor suppressor gene located on chromosome 13q14. Mutation or loss of function in both alleles of the RB1 gene leads to the uncontrolled division of retinal cells, resulting in tumor formation. The two-hit hypothesis explains this process:
1. **First Hit:** A child inherits one mutated allele of the RB1 gene from a parent (hereditary retinoblastoma) or acquires it sporadically (non-hereditary).
2. **Second Hit:** Somatic mutation or deletion of the second normal allele during retinal development.

In hereditary cases, individuals typically carry a germline RB1 mutation and develop multiple tumors in both eyes. Non-hereditary cases usually involve a spontaneous mutation and result in a single tumor in one eye.

Recent studies also suggest that other genetic and epigenetic changes may contribute to tumor progression, including amplification of the MYCN gene and dysregulation of apoptotic and cell cycle pathways.
Treatment: The priority of retinoblastoma treatment is to preserve the life of the child, then to preserve vision, and then to minimize complications or side effects of treatment. The exact course of treatment depends on the individual case and is decided by the ophthalmologist in discussion with the paediatric oncologist. Correct treatment also depends on the mutation type, whether it is a germline RB1 mutation, a sporadic RB1 mutation or MYCN amplification with functional RB1. Children with involvement of both eyes at diagnosis usually require multimodality therapy (chemotherapy, local therapies).
The various treatment modalities for retinoblastoma includes:
Enucleation of the eye – Most patients with unilateral disease present with advanced intraocular disease, so usually undergo enucleation, which results in a cure rate of 95%. In bilateral Rb, enucleation is usually reserved for eyes that have failed all known effective therapies or without useful vision.
External beam radiotherapy (EBRT) – The most common indication for EBRT is for the eye in a young child with bilateral retinoblastoma who has active or recurrent disease after completion of chemotherapy and local therapies. However, patients with hereditary disease who received EBRT therapy are reported to have a 35% risk of second cancers.
Brachytherapy involves the placement of a radioactive implant (plaque), usually on the sclera adjacent to the base of a tumor. It used as the primary treatment, or more frequently, in patients with small tumors or in those who had failed initial therapy including previous EBRT therapy.
Thermotherapy involves the application of heat directly to the tumor, usually in the form of infrared radiation. It is also used for small tumors.
Laser photocoagulation is recommended only for small posterior tumors. An argon or diode laser or a xenon arc is used to coagulate all the blood supply to the tumor.
Cryotherapy induces damage to the vascular endothelium with secondary thrombosis and infarction of the tumor tissue by rapidly freezing it. It may be used as primary therapy for small peripheral tumors or for small recurrent tumors previously treated with other methods.
Systemic chemotherapy has become forefront of treatment in the past decade, in the search for globe-preserving measures and to avoid the adverse effects of EBRT therapy. The common indications for chemotherapy for intraocular retinoblastoma include tumors that are large and that cannot be treated with local therapies alone in children with bilateral tumors. It is also used in patients with unilateral disease when the tumors are small, but cannot be controlled with local therapies alone.
Intra-arterial chemotherapy – Chemotherapeutic drugs are administered locally by a thin catheter threaded through the groin, through the aorta, and the neck, directly into the optic vessels.
Nanoparticulate chemotherapy – To reduce the adverse effects of systemic therapy, subconjuctival (local) injection of nanoparticle carriers containing chemotherapeutic agents (carboplatin) has been developed, which has shown promising results in the treatment of retinoblastoma in animal models without adverse effects.
Chemoreduction is a combined approach using chemotherapy to initially reduce the size of the tumor, and adjuvant focal treatments, such as transpupillary thermotherapy, to control the tumor.
Compassionate Use Treatment: For retinal cancer, particularly retinoblastoma, compassionate use treatment and off-label or experimental treatments can include the following:

1. **Intra-arterial Chemotherapy (IAC):** This involves directly delivering chemotherapy to the ophthalmic artery, often utilized when other treatments fail or are not viable.

2. **Intravitreal Chemotherapy:** Involves injecting chemotherapy drugs directly into the vitreous humor of the eye, typically used for vitreous seeding.

3. **Targeted therapy:** Drugs like bevacizumab (an anti-VEGF) may be used off-label to treat retinal tumors by inhibiting blood vessel growth.

4. **Immunotherapy:** Currently under investigation, these treatments harness the body's immune system to fight cancer cells.

5. **Genetic Therapy:** Experimental treatments that aim to target the genetic mutations responsible for retinoblastoma are also being studied.

It is important to note these treatments are generally considered when standard treatments are unsuccessful or unsuitable, and they are typically accessed through clinical trials or special permission from regulatory agencies.
Lifestyle Recommendations: For retinal cancer, lifestyle recommendations are as follows:

1. Regular Eye Exams: Early detection is critical. Regular screenings can help catch any anomalies early.
2. Healthy Diet: Consuming a diet rich in fruits, vegetables, and antioxidants can support overall eye health.
3. Avoid Tobacco: Smoking can increase the risk of various cancers, including those affecting the eyes.
4. Manage Sun Exposure: Wearing sunglasses with UV protection can help reduce harmful effects from direct sunlight exposure.
5. Physical Activity: Regular exercise can boost overall health and immune function, potentially lowering cancer risk.
6. Monitor Symptoms: Be vigilant about any changes in vision or eye appearance and consult healthcare providers promptly.

Note: Specific recommendations for treatment and prevention should be discussed with a healthcare professional.
Medication: Retinoblastoma, a type of retinal cancer, primarily affects young children. While chemotherapy is a common treatment, there isn't a specific medication universally prescribed for all cases. The course of treatment can depend on factors like tumor size and location. Some chemotherapy drugs used include vincristine, etoposide, and carboplatin. Novel treatments and approaches, such as targeted therapy and immunotherapy, are also being researched.
Repurposable Drugs: Repurposable drugs for retinal cancer (also known as retinoblastoma) include:

1. Carboplatin: Originally used for ovarian and lung cancer.
2. Etoposide: Commonly used for testicular and small cell lung cancer.
3. Vincristine: Typically used for leukemia and other lymphomas.

Further clinical research may be necessary to confirm their efficacy and safety in treating retinoblastoma.
Metabolites: Retinoblastoma, a type of retinal cancer, doesn't have specific metabolites associated with its diagnosis. Metabolism in the context of cancer generally refers to biochemical processes within cells, but for retinoblastoma, diagnostic methods usually revolve around imaging, genetic testing, and histopathological evaluation rather than metabolic profiling.
Nutraceuticals: There is no established evidence or widely accepted treatment protocols using nutraceuticals for retinal cancer, particularly retinoblastoma, which is the most common form of retinal cancer. Nutraceuticals, which include vitamins, minerals, and herbal supplements, have not been proven to be effective in treating or preventing this type of cancer. Traditional treatments typically involve a combination of surgery, chemotherapy, radiation therapy, and in some cases, targeted therapies. Always consult with a healthcare professional for advice on treatment options.
Peptides: Information on peptides and their use in retinal cancer treatment is relatively limited due to the rarity and complexity of this type of cancer. Retinoblastoma is the most common form of retinal cancer, primarily affecting young children. Some research suggests that synthetic peptides could potentially be used for targeted drug delivery or immunotherapy in ocular cancers, including targeted inhibition of signaling pathways involved in tumor growth. However, this is an area of ongoing research, and clinical applications may still be under development.

If "nan" refers to nanoparticles, they hold promise for retinal cancer treatment due to their ability to precisely deliver therapeutic agents to the tumor site. Nanoparticles can be engineered to carry drugs, genes, or imaging agents directly to cancer cells while minimizing side effects to healthy tissue. This targeted approach could improve the efficacy of treatments and reduce complications.

In conclusion, while both peptides and nanoparticles show potential in the treatment of retinal cancer, extensive research and clinical trials are necessary to confirm their efficacy and safety.