retinoblastoma

What is Retinoblastoma?

Retinoblastoma is a type of eye cancer that starts as a growth of cells in the retina, which is the light-sensitive lining on the back of the eye [1]. It is the most common type of eye cancer in children [2], and it originates from retinoblasts, which are cells that develop from a single cell during early development in the womb [4].

Causes and Characteristics

Retinoblastoma is a rare eye cancer that usually develops in early childhood, typically before the age of 5 [6]. The most common sign of retinoblastoma is a white pupil (the round black opening in the center of the eye) when a light shines into the eye [5]. It is characterized by a relatively flat infiltration of the retina by tumor cells but without a discrete tumor mass [7].

Incidence and Demographics

Retinoblastoma is the most common intraocular malignancy in children, with a reported incidence ranging from 1 in 15,000 to 1 in 18,000 live births [8]. It primarily affects young children, and its primitive neuroendocrine origins make it an intraocular malignancy that requires prompt attention [9].

Definition

Retinoblastoma is defined as a malignant ocular tumor of retinal cells; usually occurs before the third year of life; composed of primitive small round retinal cells [10].

Retinoblastoma is a rare form of cancer that affects the retina, which is the light-sensitive tissue at the back of the eye. The signs and symptoms of retinoblastoma can vary depending on the stage and severity of the disease.

Common Symptoms:

• A white reflection or glare in one or both pupils when exposed to light [1][2]
• Eye redness
• Vision problems
• Eye pain
• Redness of the white part of the eye
• Bleeding in the front part of the eye

Other Possible Signs and Symptoms:

• Crossed eyes or an eye that drifts in a different direction
• Eye swelling or inflammation
• Watery or discharge-like symptoms from the eye
• A painful, red eye; poor vision; inflammation of tissue surrounding the eye; an enlarged or dilated pupil; different colored irises [5]

Symptoms in Later Stages:

• A painful red eye
• Loss or decrease of vision in the affected eye

It's essential to note that some symptoms may not be immediately apparent, and only a comprehensive eye examination by an ophthalmologist can confirm the presence of retinoblastoma. If you suspect any unusual signs or symptoms, it is crucial to seek medical attention promptly.

References: [1] - Context result 2 [2] - Context result 6 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5

Retinoblastoma, a rare form of cancer that affects the retina, can be diagnosed through various diagnostic tests. Here are some of the common tests used to diagnose retinoblastoma:

• Imaging tests: These include ultrasound, MRI (Magnetic Resonance Imaging) scan, CT (Computed Tomography) scan, and bone scan [1]. An MRI scan is often used to study the brain and the area around the eye with tumor [3].
• Genetic testing: This test uses a sample of blood or saliva to look for genetic mutations that can indicate retinoblastoma [2].
• Eye exam: A thorough eye exam by an ophthalmologist or pediatrician is essential in diagnosing retinoblastoma. The doctor may use specialized equipment such as an ultrasound or MRI scan during the exam [4].
• Ultrasound: This test uses high-frequency sound waves to create images of the retina and surrounding tissues. It can help distinguish retinoblastomas from non-neoplastic conditions and detect calcifications [9].
• MRI and CT scans: These imaging tests can show calcium accumulations that are common with retinoblastoma, as well as other abnormalities in the eye and brain [10].

In addition to these tests, a biopsy may be performed to confirm the diagnosis of retinoblastoma. During a biopsy, doctors retrieve a small piece of suspected cancer tissue for examination under a microscope [8].

Treatment Options for Retinoblastoma

Retinoblastoma, a rare form of eye cancer that primarily affects children, can be treated with various drug therapies. The primary goal of treatment is to eliminate the tumor while preserving vision and eye function.

• Chemotherapy: Chemotherapy uses anticancer (cytotoxic) drugs to destroy cancer cells [8]. It is usually used to treat retinoblastoma and has solidified its role as the cornerstone of retinoblastoma treatment [9].
• Methotrexate: Methotrexate has been used to treat retinoblastoma metastases to the central nervous system (CNS) [2].
• Cyclophosphamide: Cyclophosphamide is an alkylating agent of the nitrogen mustard type that has been used in combination with other drugs to treat retinoblastoma [2].
• Melphalan and Topotecan: Melphalan and topotecan have been the most commonly used drugs which may be injected every 7–21 days; the number of injections varies depending on the patient's response [3].

Emerging Treatment Options

Novel approaches in the treatment of intraocular retinoblastoma include:

• Oncolytic Viruses: Oncolytic viruses are being explored as a promising approach in the treatment of intraocular retinoblastoma [5].
• Immunotherapy: Immunotherapy is another emerging area of research for treating retinoblastoma, with studies showing potential benefits [5].

Chemoreduction

Primary neoadjuvant chemotherapy or chemoreduction has been the most significant recent advance in the treatment of retinoblastoma [6]. Chemoreduction involves using chemotherapy to reduce the size of the tumor before other treatments are applied.

References:

[1] Oct 7, 2021 — Retinoblastoma treatment may include cryosurgery, laser therapy (thermotherapy), chemotherapy, radiation therapy, high-dose chemotherapy ...

[2] by M Shahsavari · 2009 · Cited by 19 — Methotrexate has been used to treat retinoblastoma metastases to the central nervous system (CNS).

[3] by P Schaiquevich · 2022 · Cited by 61 — Melphalan and topotecan have been the most commonly used drugs which may be injected every 7–21 days; the number of injections varies depending ...

[4] Jul 24, 2024 — Retinoblastoma treatment is tailored and uses treatment options including enucleation, local treatments, chemotherapy, and radiation therapy ...

[5] by P Schaiquevich · 2022 · Cited by 61 — Novel drugs, oncolytic viruses, and immunotherapy are promising approaches in the treatment of intraocular retinoblastoma.

[6] Dec 17, 2019 — Chemotherapy. Primary neoadjuvant chemotherapy or chemoreduction has been the most significant recent advance in the treatment of retinoblastoma ...

[7] Dec 3, 2018 — Treatment options might include brachytherapy (plaque radiotherapy), cryotherapy, or laser therapy (photocoagulation or thermotherapy). External ...

[8] Chemotherapy uses anticancer (cytotoxic) drugs to destroy cancer cells. It is usually used to treat retinoblastoma.

[9] by T Kritfuangfoo · 2024 · Cited by 4 — Chemotherapy, administered through diverse routes, has solidified its role as the cornerstone of retinoblastoma treatment.

Differential Diagnosis of Retinoblastoma

Retinoblastoma, a type of eye cancer that primarily affects children, has several differential diagnoses that must be considered for accurate diagnosis and treatment. The following conditions are often included in the differential diagnosis of retinoblastoma:

• Coats disease: A rare eye disorder characterized by abnormal blood vessels on the retina, which can cause leukocoria (white reflex) and vision loss [5].
• Retinopathy of prematurity: A condition that affects premature infants, causing abnormal blood vessel growth in the retina, which can lead to retinal detachment and vision loss [2].
• Toxocariasis: An infection caused by the Toxocara parasite, which can cause eye inflammation and vision problems [2].
• Persistent fetal vasculature: A rare condition where abnormal blood vessels persist in the eye after birth, which can cause leukocoria and vision loss [2].
• Uveitis: Inflammation of the uvea, a part of the eye that includes the iris, ciliary body, and choroid, which can be caused by various conditions such as infections or autoimmune disorders [1].

Key Features to Consider

When considering differential diagnoses for retinoblastoma, it is essential to note the following key features:

• Age: Retinoblastoma typically affects children under the age of 5.
• Symptoms: Leukocoria (white reflex), strabismus (crossed eyes), and vision loss are common symptoms of retinoblastoma.
• Imaging findings: Imaging studies such as ultrasound, CT, or MRI can help identify characteristic features of retinoblastoma, such as calcifications and heterogeneity due to necrosis and hemorrhage [7].

References

[1] Dec 17, 2019 — Differential Diagnoses · Congenital Cataract · Exudative Retinal Detachment · Pediatric Tuberculosis · Retinopathy of Prematurity · Uveitis

[2] by H Ishaq · 2023 · Cited by 23 — Differential Diagnosis · Persistent anterior fetal vasculature · Persistent posterior fetal vasculature · Coats disease · Retinopathy of prematurity · Toxocariasis.

[5] by A Balmer · 2007 · Cited by 129 — Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma · Coats' disease (primary retinal telangiectasia) · Persistent ...

[7] Retinoblastomas appear as echogenic soft-tissue masses with variable shadowing due to calcifications and heterogeneity due to necrosis and hemorrhage 5. At ...