Materiały źródłowe

• #1 Retinoblastoma: Clinical presentation, evaluation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/retinoblastoma-clinical-presentation-evaluation-and-diagnosis

  Retinoblastoma is the most common primary intraocular malignancy of childhood and accounts for 10 to 15 percent of cancers that occur within the first year of life. Retinoblastoma typically presents as leukocoria in a child under the age of three years. Untreated retinoblastoma is a deadly disease; however, with advances in treatment, overall survival in the contemporary era is >95 percent. Prompt referral to an ocular oncologist and appropriate management by a multidisciplinary team are necessary to optimize overall and ocular survival and visual outcomes. […] The clinical presentation, evaluation, and diagnosis of retinoblastoma are reviewed here. […] Patients with heritable retinoblastoma must attain a second somatic mutation of the RB1 gene in the retina in order to initiate tumorigenesis. […] Nonheritable (also called nonhereditary, nonfamilial, sporadic, or somatic) retinoblastoma results from somatic mutations only.

• #2 Retinoblastoma | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0315/p1039.html

  Retinoblastoma, a neuroblastic tumor, is the most common primary intraocular malignancy of childhood. Patients usually present with leukokoria (white reflex or white pupil), detected in primary care. The mean age at diagnosis is 12 months for bilateral tumors and 24 months for unilateral tumors. […] Diagnosis is primarily by history and complete ophthalmic examination, with studies including ultrasonography of the eye and imaging of the orbits and brain. […] Leukokoria (white reflex, or white pupil, instead of the normal red reflex) is the most common presenting sign and often is noticed by the family. On physical examination, normal red reflex is more orange than red (the term is misleading), and can vary by iris pigmentation. […] Diagnosis of retinoblastoma usually is based on the ophthalmoscopic appearance of the tumor, but a complete history and review of systems is always indicated.

• #3 Retinoblastoma – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/1055

  Retinoblastoma is the most common intraocular malignancy in children. […] 90% of all retinoblastoma cases are diagnosed by 3 years of age. […] Most common presenting sign is leukocoria (white pupillary reflex), which can often be seen in photographs. […] 10-year survival is 99% in resource-rich countries. Patients in resource-poor countries typically present with extraocular extension or metastatic disease with a dismal prognosis. […] Diagnostic investigations include funduscopy and examination under anaesthesia, wide-field fundus photography and spectral domain optical coherence tomography (sdOCT), and ophthalmic A- and B-scan ultrasound. […] Investigations to consider include genetic testing, MRI head/orbit, bone marrow aspiration, and lumbar puncture. […] Emerging tests include liquid biopsy.

• #4 Diagnosis and prognosis | Share4Rare

  http://www.share4rare.org/library/retinoblastoma/diagnosis-and-prognosis

  The earlier the diagnosis, the higher the chances are of cure and preservation of visual function. Hence, early screening of all children with the red-eye reflex test and an ophthalmology examination is vital to detect the disease at its earliest stages. […] Once the disease is suspected, an ophthalmologist completes the final diagnosis through an eye exam, which is generally performed under anaesthesia. Diagnosis does not require a pathologic confirmation. The ophthalmologist determines the extent of the disease inside the eye and will grade it to facilitate treatment planning. […] To assess the extraocular and intracranial extension of the disease, a brain and orbit Magnetic Resonance Imaging (MRI) is preferred to a Computerized Tomography (CT scan) at diagnosis. In cases of advanced disease, a bone marrow biopsy and a spinal tap will be done as well. Treatment will be tailored to the stage of the disease, based on the ophthalmologist exam and the extension of the disease outside the eye.

• #5 Retinoblastoma – Diagnosis & Disease Information

  https://www.cancertherapyadvisor.com/ddi/retinoblastoma/

  Retinoblastoma is a malignant intraocular cancer that primarily affects children younger than age 5 years. If diagnosed and treated in its early stages, retinoblastoma is curable; in developed countries survival rates exceed 95%. Clinical manifestations of retinoblastoma include leukocoria (a white pupillary reflex), strabismus (crossed eyes), and a gradual loss of vision. […] The diagnosis of retinoblastoma starts with a detailed patient history, with a focus on the family history and ocular symptoms. Having a family history of retinoblastoma substantially increases a child’s risk. Key ocular symptoms include leukocoria, strabismus, vision loss, redness, and swelling. […] The diagnosis is established based on a comprehensive ophthalmologic examination conducted under anesthesia to assess for the presence of characteristic retinal lesions. Other imaging techniques used for the diagnosis include ultrasound for evaluating tumor size and position, and magnetic resonance imaging for obtaining structural information and evaluating extraocular extension. Genetic testing for the RB1 mutation may be performed, particularly when genetic causes are suspected.

• #6 Retinoblastoma: Evaluation and Diagnosis | Ento Key

  https://entokey.com/retinoblastoma-evaluation-and-diagnosis/

  Leukocoria or cats eye reflex 45 % Strabismus 25 % Inflammatory symptoms (preseptal cellulitis) 10 % Poor vision 10 % Screening due to family history 5 % Incidental detection 5 % Modified from Abramson et al. […] One of the major limitations to prompt treatment of retinoblastoma worldwide is access to health care. […] Consequently, a thorough and detailed assessment should be done on patients suspected of having retinoblastoma. […] A practical stepwise approach specifically to evaluate a child suspected to have retinoblastoma includes detailed history taking, initial office examination, and focused ophthalmic ultrasonography, followed by examination under anesthesia and neuroimaging if necessary. […] For a child suspected of having retinoblastoma, it is important to examine the patient and family promptly upon referral, and the initial consultation may be performed in an office setting.

• #7 Retinoblastoma: Evaluation and Diagnosis | Ento Key

  https://entokey.com/retinoblastoma-evaluation-and-diagnosis/

  Leukocoria or cats eye reflex 45 % Strabismus 25 % Inflammatory symptoms (preseptal cellulitis) 10 % Poor vision 10 % Screening due to family history 5 % Incidental detection 5 % Modified from Abramson et al. […] One of the major limitations to prompt treatment of retinoblastoma worldwide is access to health care. […] Consequently, a thorough and detailed assessment should be done on patients suspected of having retinoblastoma. […] A practical stepwise approach specifically to evaluate a child suspected to have retinoblastoma includes detailed history taking, initial office examination, and focused ophthalmic ultrasonography, followed by examination under anesthesia and neuroimaging if necessary. […] For a child suspected of having retinoblastoma, it is important to examine the patient and family promptly upon referral, and the initial consultation may be performed in an office setting.

• #8 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  When a child is brought to the pediatrician or family doctor with signs or symptoms that could indicate retinoblastoma, the young patient is usually referred to a pediatric ophthalmologist or to an ocular oncologist to confirm the diagnosis. […] The ocular oncology team at UT Southwestern uses the most advanced and accurate equipment available to make a diagnosis of retinoblastoma. […] After performing a thorough medical history, the ocular oncologist will perform an examination while the child is under anesthesia and use a variety of equipment to make the diagnosis of retinoblastoma. Biopsies are rarely performed to diagnose this disease, due to the concern of spreading cancer cells. […] To diagnose retinoblastoma, we may use: […] Retinal examination: Using an indirect ophthalmoscope, the ocular oncologist will examine the entire retina while the patients eyes are dilated. This is a very important part of the diagnostic work-up, as an experienced ocular oncologist can diagnose retinoblastoma simply by looking at the tumor.

• #9 Diagnosis of retinoblastoma | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/retinoblastoma/diagnosis

  An eye exam is done by an eye specialist (ophthalmologist). Your child may see an eye doctor who specializes in eye diseases and vision care in children (a pediatric ophthalmologist). During an eye exam, the doctor will check your child’s vision and eye health and look for any signs of retinoblastoma. […] An ultrasound of the eye and eye socket (orbit) may be done under anesthesia depending on the child’s age. It can help to find any calcification and to see how close the tumour is to important structures of the eye, such as the choroid and sclera. […] An RB1 gene test is a lab test that involves testing a sample of blood or tissue to see if there are any changes (mutations) in the RB1 gene. Mutations in the RB1 gene are often connected to retinoblastoma. […] An MRI is used to look at the size and number of tumours and to see whether a tumour involves certain structures of the eye, such as the optic nerve.

• #10 Retinoblastoma | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/28458

  Retinoblastoma diagnosis relies on clinical examination, imaging, and molecular testing. […] Ophthalmic evaluation under anesthesia remains the gold standard, allowing detailed retinal assessment with indirect ophthalmoscopy. […] Imaging modalities such as ultrasound, magnetic resonance imaging (MRI), and optical coherence tomography (OCT) help confirm the diagnosis, evaluate intraocular disease extent, and rule out extraocular or metastatic spread. […] MRI is particularly useful for detecting optic nerve invasion, a key prognostic factor. […] Molecular analysis of the RB1 gene confirms hereditary retinoblastoma and guides family counseling. […] Identifying germline mutations allows targeted screening of at-risk relatives, facilitating early detection. […] Emerging liquid biopsy techniques, such as tumor-derived DNA detection in aqueous humor or plasma, offer a promising noninvasive diagnostic approach.

• #11 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  When a child is brought to the pediatrician or family doctor with signs or symptoms that could indicate retinoblastoma, the young patient is usually referred to a pediatric ophthalmologist or to an ocular oncologist to confirm the diagnosis. […] The ocular oncology team at UT Southwestern uses the most advanced and accurate equipment available to make a diagnosis of retinoblastoma. […] After performing a thorough medical history, the ocular oncologist will perform an examination while the child is under anesthesia and use a variety of equipment to make the diagnosis of retinoblastoma. Biopsies are rarely performed to diagnose this disease, due to the concern of spreading cancer cells. […] To diagnose retinoblastoma, we may use: […] Retinal examination: Using an indirect ophthalmoscope, the ocular oncologist will examine the entire retina while the patients eyes are dilated. This is a very important part of the diagnostic work-up, as an experienced ocular oncologist can diagnose retinoblastoma simply by looking at the tumor.

• #12 Retinoblastoma (brief information)

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/solid_tumours/retinoblastoma/brief_information/index_eng.html

  If a childs medical history (anamnesis), presenting complaints and symptoms, as well as the physical examination, particularly the eye exam, are suggestive of retinoblastoma, the patient should immediately be referred to a childrens cancer centre. There, diagnostics and treatment can be initiated and performed by specialists with the necessary expertise in childhood cancer. Close collaboration between various specialists (such as paediatric oncologists, eye doctors, surgeons, radiologists, radiation oncologists, to name a few) as well as special tests are required to confirm the diagnosis and to determine the type of retinoblastoma (hereditary or non-hereditary) and how the disease has spread. Knowing these details is absolutely essential for optimal treatment planning and prognosis. […] The most important initial diagnostic procedure for a young patient presenting with suspected retinoblastoma is the examination of the eye (fundoscopy). This includes looking at the fundus of both eyes with an ophthalmoscope and bright light. In case of retinoblastoma, fundoscopy also helps to assess the extent of the disease, which serves as a basis for staging. This considers the number, size and site of tumours as well as the potential extent beyond the retina or within the glass body of the eye. For this eye exam, the patient is usually sedated and the pupils have been maximally dilated (mydriasis).

• #13 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  When a child is brought to the pediatrician or family doctor with signs or symptoms that could indicate retinoblastoma, the young patient is usually referred to a pediatric ophthalmologist or to an ocular oncologist to confirm the diagnosis. […] The ocular oncology team at UT Southwestern uses the most advanced and accurate equipment available to make a diagnosis of retinoblastoma. […] After performing a thorough medical history, the ocular oncologist will perform an examination while the child is under anesthesia and use a variety of equipment to make the diagnosis of retinoblastoma. Biopsies are rarely performed to diagnose this disease, due to the concern of spreading cancer cells. […] To diagnose retinoblastoma, we may use: […] Retinal examination: Using an indirect ophthalmoscope, the ocular oncologist will examine the entire retina while the patients eyes are dilated. This is a very important part of the diagnostic work-up, as an experienced ocular oncologist can diagnose retinoblastoma simply by looking at the tumor.

• #14 Retinoblastoma – EyeWiki

  https://eyewiki.org/Retinoblastoma

  Additional testing should include A and B-scan ultrasound. […] Though computerized tomography (CT) scan can help demonstrate the presence or absence of calcium deposits and help define the size of the tumor, it should generally be avoided with preference for an MRI when available. […] Retinoblastoma classically presents with one or multiple nodular, white, or cream-colored masses often associated with increased vascularization. […] If the tumor grows anteriorly into the vitreous it is known as an endophytic tumor. […] Examination under anesthesia with extended ophthalmoscopy is required for patients with retinoblastoma for diagnosis and staging; retinal photography is also important for documentation, the education of the patient and family, and for future comparison. […] The priorities in the treatment of retinoblastoma are to preserve life, preserve globe, and preserve vision, in that specific order.

• #15 Tests for Retinoblastoma | Diagnosing Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/detection-diagnosis-staging/how-diagnosed.html

  Retinoblastomas are usually found when a child is brought to a doctor because they are having certain signs or symptoms. […] But biopsies usually are not done to diagnose retinoblastoma, for 2 main reasons: Taking a biopsy specimen from a tumor in the eye cant be done easily without harming the eye and risking the spread of cancer cells outside the eye. Retinoblastoma can usually be diagnosed accurately without a biopsy by doctors who have experience with this disease, and its unlikely to be confused with other eye problems in children. […] If a retinoblastoma is suspected, the doctor will refer you to an ophthalmologist (a doctor who specializes in eye diseases), who will examine the eye closely to be more certain about the diagnosis. […] If a diagnosis of retinoblastoma seems likely based on the eye exam, imaging tests will be done to help confirm it and to find out how far it might have spread within the eye and possibly to other parts of the body.

• #16 Tests for Retinoblastoma | Diagnosing Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/detection-diagnosis-staging/how-diagnosed.html

  For most cancers, a biopsy (removing a tissue sample from the tumor and looking at it under a microscope) is needed to make a diagnosis. But trying to biopsy a tumor at the back of the eye can often damage the eye and may spread tumor cells, so this is almost never done to diagnose retinoblastoma. Instead, doctors make the diagnosis based on eye exams and on imaging tests, like those listed above. This is why it’s very important that the diagnosis of retinoblastoma is made by experts.

• #17 Retinoblastoma – Definition, Symptoms, Diagnosis & Treatment Information | MD Anderson Cancer Center

  https://www.mdanderson.org/cancer-types/retinoblastoma.html

  Retinoblastoma is a cancer of the retina, a light-sensitive layer of tissue in the eye. While it is rare, it is the most common malignant tumor that starts in the eye in children. […] Only about 350 retinoblastoma cases are diagnosed each year in the United States. It usually occurs before age five. Most of these cases are in children under two. […] The early signs of retinoblastoma, such as a white reflex in the eye, are usually found when a child visits a pediatrician. If the assessment is concerning, they will refer the child to an ophthalmologist or an ocular oncologist for a diagnostic eye exam, which may include: […] A biopsy is not used to diagnose retinoblastoma because it can potentially harm the eye, and removing tissue from the tumor can cause the cancer cells to spread. […] After the exams and testing are done, the cancer specialist will determine whether it’s retinoblastoma, says Gombos, stressing the importance of seeing someone with extensive experience diagnosing eye cancers.

• #18 Retinoblastoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/retinoblastoma/diagnosis-treatment/drc-20351013

  Retinoblastoma diagnosis often starts with an eye exam. Imaging tests can help show the size of the cancer. […] A healthcare professional carefully examines your child’s eyes during an eye exam. This might involve testing your child’s vision and using a special light to look inside the eye. […] Imaging tests make pictures of the inside of the body. For retinoblastoma, imaging tests are used to look at the eye and the area around it. The images might show the size of the cancer and whether it has grown beyond the eye. Imaging tests may include ultrasound and MRI, among others. […] Genetic testing for retinoblastoma looks for variations in a part of the DNA called the RB1 gene. […] If genetic testing shows your child has variations in the RB1 gene in all of the cells in the body, this helps the healthcare team plan your child’s treatment.

• #19 Tests for Retinoblastoma | Diagnosing Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/detection-diagnosis-staging/how-diagnosed.html

  Imaging tests may be done for a number of reasons, including: To help tell if a tumor in the eye is likely to be a retinoblastoma. […] Ultrasound is one of the most common imaging tests to confirm a child has retinoblastoma. […] An MRI scan creates detailed images using radio waves and strong magnets (instead of x-rays). MRI scans often are used for retinoblastomas because they provide very detailed images of the eye and surrounding structures, without using radiation. […] A blood test can be done to look for the RB1 gene change in cells outside the eye. This test can usually tell if the child has the heritable form of retinoblastoma. […] Knowing which form a child has important, because children with heritable retinoblastoma have an increased risk for developing other cancers later in life, and are more likely to develop cancer if they get radiation therapy.

• #20 Retinoblastoma: What the Neuroradiologist Needs to Know | American Journal of Neuroradiology

  http://www.ajnr.org/content/early/2021/01/28/ajnr.A6949

  Poor prognostic features of choroidal invasion and optic nerve extension cannot be reliably detected on clinical examination, so MR imaging detection of extraocular disease and intracranial tumor is crucial. […] On imaging, retinoblastoma is typically irregular in contour. […] Calcification is a key diagnostic feature present in approximately 95% of cases. […] Although CT has been used historically to detect tumor calcification, ultrasonography has good sensitivity, and because of potential increased risk for second cancers with ionizing radiation exposure, especially in germline retinoblastoma, sonography for detection of calcification has replaced CT, and the role of CT in the evaluation of retinoblastoma is now considered obsolete. […] Retinoblastoma treatment is individualized depending on International Classification of Retinoblastoma group staging, laterality of involvement, germline testing results, institutional resources, and psychosocial factors. Current treatment modalities include IV chemotherapy (IVC), IAC, intravitreal chemotherapy (IvitC), intracameral chemotherapy, consolidation therapies (cryotherapy and transpupillary thermotherapy), radiation-based therapies (external-beam radiation therapy [EBRT] and plaque radiation therapy), and enucleation.

• #21 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  Retinal photography: UT Southwestern and Childrens Medical Center use state-of-the-art retinal fundus cameras to document and measure all retinoblastomas in each eye and monitor their size over time after treatment is administered. […] Ultrasonography: This is a test that uses sound waves to produce detailed images of the inside of the eye and eye socket. This test is critical for measuring the size of tumors and detecting retinal detachment, calcium deposits, tumor seeding, and other features that are important in diagnosing and staging retinoblastoma. […] Optical coherence tomography (OCT): This test uses lightwaves to create a high-resolution image of the retina, which can be very useful in detecting small retinoblastomas. […] Fluorescein angiography: This test involves injecting a nonradioactive fluorescent dye into a vein in the arm or hand, then photographing the retina as the dye passes through the retinal blood vessels to detect changes in their structure or function. It can help to distinguish retinoblastoma from other abnormalities in the eye and assess response to therapy.

• #22 Tests for Retinoblastoma | Diagnosing Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/detection-diagnosis-staging/how-diagnosed.html

  Imaging tests may be done for a number of reasons, including: To help tell if a tumor in the eye is likely to be a retinoblastoma. […] Ultrasound is one of the most common imaging tests to confirm a child has retinoblastoma. […] An MRI scan creates detailed images using radio waves and strong magnets (instead of x-rays). MRI scans often are used for retinoblastomas because they provide very detailed images of the eye and surrounding structures, without using radiation. […] A blood test can be done to look for the RB1 gene change in cells outside the eye. This test can usually tell if the child has the heritable form of retinoblastoma. […] Knowing which form a child has important, because children with heritable retinoblastoma have an increased risk for developing other cancers later in life, and are more likely to develop cancer if they get radiation therapy.

• #23 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  Electroretinogram (ERG): This test is rarely needed but in select patients can be used to assess the health and visual potential of the retina by measuring electrical responses of the light-sensitive retinal cells. […] Magnetic resonance imaging (MRI): This is a test performed in the radiology unit to evaluate the eye, eye sockets, and brain. MRI is very important as an initial baseline examination; it is used periodically thereafter to determine the extent of retinoblastoma and assess response to therapy. […] Genetic testing: Depending on the family history and other circumstances, genetic testing may be recommended to assess for a germline mutation in the RB1 gene to determine if the retinoblastoma is hereditary or non-hereditary. […] The International Intraocular Retinoblastoma Classification (IIRC) is the staging system that most ocular oncologists now use. It divides retinoblastomas into five groups based on the extent of the cancer within the eye and on the chances the eye can be saved using current chemotherapy. […] After retinoblastoma has been diagnosed and staged, UT Southwestern ocular oncologists work with the family to customize a treatment plan for each patient.

• #24 Retinoblastoma | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/28458

  Retinoblastoma diagnosis relies on clinical examination, imaging, and molecular testing. […] Ophthalmic evaluation under anesthesia remains the gold standard, allowing detailed retinal assessment with indirect ophthalmoscopy. […] Imaging modalities such as ultrasound, magnetic resonance imaging (MRI), and optical coherence tomography (OCT) help confirm the diagnosis, evaluate intraocular disease extent, and rule out extraocular or metastatic spread. […] MRI is particularly useful for detecting optic nerve invasion, a key prognostic factor. […] Molecular analysis of the RB1 gene confirms hereditary retinoblastoma and guides family counseling. […] Identifying germline mutations allows targeted screening of at-risk relatives, facilitating early detection. […] Emerging liquid biopsy techniques, such as tumor-derived DNA detection in aqueous humor or plasma, offer a promising noninvasive diagnostic approach.

• #25 Retinoblastoma: What the Neuroradiologist Needs to Know | American Journal of Neuroradiology

  http://www.ajnr.org/content/early/2021/01/28/ajnr.A6949

  Poor prognostic features of choroidal invasion and optic nerve extension cannot be reliably detected on clinical examination, so MR imaging detection of extraocular disease and intracranial tumor is crucial. […] On imaging, retinoblastoma is typically irregular in contour. […] Calcification is a key diagnostic feature present in approximately 95% of cases. […] Although CT has been used historically to detect tumor calcification, ultrasonography has good sensitivity, and because of potential increased risk for second cancers with ionizing radiation exposure, especially in germline retinoblastoma, sonography for detection of calcification has replaced CT, and the role of CT in the evaluation of retinoblastoma is now considered obsolete. […] Retinoblastoma treatment is individualized depending on International Classification of Retinoblastoma group staging, laterality of involvement, germline testing results, institutional resources, and psychosocial factors. Current treatment modalities include IV chemotherapy (IVC), IAC, intravitreal chemotherapy (IvitC), intracameral chemotherapy, consolidation therapies (cryotherapy and transpupillary thermotherapy), radiation-based therapies (external-beam radiation therapy [EBRT] and plaque radiation therapy), and enucleation.

• #26 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  Retinal photography: UT Southwestern and Childrens Medical Center use state-of-the-art retinal fundus cameras to document and measure all retinoblastomas in each eye and monitor their size over time after treatment is administered. […] Ultrasonography: This is a test that uses sound waves to produce detailed images of the inside of the eye and eye socket. This test is critical for measuring the size of tumors and detecting retinal detachment, calcium deposits, tumor seeding, and other features that are important in diagnosing and staging retinoblastoma. […] Optical coherence tomography (OCT): This test uses lightwaves to create a high-resolution image of the retina, which can be very useful in detecting small retinoblastomas. […] Fluorescein angiography: This test involves injecting a nonradioactive fluorescent dye into a vein in the arm or hand, then photographing the retina as the dye passes through the retinal blood vessels to detect changes in their structure or function. It can help to distinguish retinoblastoma from other abnormalities in the eye and assess response to therapy.

• #27 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  Retinal photography: UT Southwestern and Childrens Medical Center use state-of-the-art retinal fundus cameras to document and measure all retinoblastomas in each eye and monitor their size over time after treatment is administered. […] Ultrasonography: This is a test that uses sound waves to produce detailed images of the inside of the eye and eye socket. This test is critical for measuring the size of tumors and detecting retinal detachment, calcium deposits, tumor seeding, and other features that are important in diagnosing and staging retinoblastoma. […] Optical coherence tomography (OCT): This test uses lightwaves to create a high-resolution image of the retina, which can be very useful in detecting small retinoblastomas. […] Fluorescein angiography: This test involves injecting a nonradioactive fluorescent dye into a vein in the arm or hand, then photographing the retina as the dye passes through the retinal blood vessels to detect changes in their structure or function. It can help to distinguish retinoblastoma from other abnormalities in the eye and assess response to therapy.

• #28 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  Retinal photography: UT Southwestern and Childrens Medical Center use state-of-the-art retinal fundus cameras to document and measure all retinoblastomas in each eye and monitor their size over time after treatment is administered. […] Ultrasonography: This is a test that uses sound waves to produce detailed images of the inside of the eye and eye socket. This test is critical for measuring the size of tumors and detecting retinal detachment, calcium deposits, tumor seeding, and other features that are important in diagnosing and staging retinoblastoma. […] Optical coherence tomography (OCT): This test uses lightwaves to create a high-resolution image of the retina, which can be very useful in detecting small retinoblastomas. […] Fluorescein angiography: This test involves injecting a nonradioactive fluorescent dye into a vein in the arm or hand, then photographing the retina as the dye passes through the retinal blood vessels to detect changes in their structure or function. It can help to distinguish retinoblastoma from other abnormalities in the eye and assess response to therapy.

• #29 Retinoblastoma Diagnosis and Stages | Retinoblastoma | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/retinoblastoma/retinoblastoma-diagnosis-and-stages/

  Retinal photography: UT Southwestern and Childrens Medical Center use state-of-the-art retinal fundus cameras to document and measure all retinoblastomas in each eye and monitor their size over time after treatment is administered. […] Ultrasonography: This is a test that uses sound waves to produce detailed images of the inside of the eye and eye socket. This test is critical for measuring the size of tumors and detecting retinal detachment, calcium deposits, tumor seeding, and other features that are important in diagnosing and staging retinoblastoma. […] Optical coherence tomography (OCT): This test uses lightwaves to create a high-resolution image of the retina, which can be very useful in detecting small retinoblastomas. […] Fluorescein angiography: This test involves injecting a nonradioactive fluorescent dye into a vein in the arm or hand, then photographing the retina as the dye passes through the retinal blood vessels to detect changes in their structure or function. It can help to distinguish retinoblastoma from other abnormalities in the eye and assess response to therapy.

• #30 Retinoblastoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/retinoblastoma/diagnosis-treatment/drc-20351013

  Retinoblastoma diagnosis often starts with an eye exam. Imaging tests can help show the size of the cancer. […] A healthcare professional carefully examines your child’s eyes during an eye exam. This might involve testing your child’s vision and using a special light to look inside the eye. […] Imaging tests make pictures of the inside of the body. For retinoblastoma, imaging tests are used to look at the eye and the area around it. The images might show the size of the cancer and whether it has grown beyond the eye. Imaging tests may include ultrasound and MRI, among others. […] Genetic testing for retinoblastoma looks for variations in a part of the DNA called the RB1 gene. […] If genetic testing shows your child has variations in the RB1 gene in all of the cells in the body, this helps the healthcare team plan your child’s treatment.

• #31 Retinoblastoma – EyeWiki

  https://eyewiki.org/Retinoblastoma

  Retinoblastoma must always be in the differential diagnosis for any child who presents with strabismus, leukocoria, a red eye, or a cellulitis-like picture. […] The American Academy of Pediatrics policy statement on Red Reflex Examinations in Neonates, Infants, and Children recommends that all neonates, infants, and children should have an examination of the red reflex before discharge from the neonatal nursery and at all subsequent routine health supervision visits. […] Genetic testing for RB1 mutations is recommended for all cases of retinoblastoma if possible. […] A careful history of present illness, family history, and thorough ophthalmic examination (as well as appropriate ancillary studies) are critical for prompt diagnosis. […] If there is any suspicion for retinoblastoma, the patient should undergo an examination under anesthesia with careful scleral depression to evaluate the entire retina is necessary to confirm the diagnosis of retinoblastoma as well as to determine the exact location and extent of the tumor(s) and the tumor staging.

• #32 Retinoblastoma | Doctor

  https://patient.info/doctor/retinoblastoma-pro

  Retinoblastoma (Rb) is an embryonal tumour of the retina and is the most common malignancy of the eye in children. Onset generally occurs between the third month of pregnancy and 5 years of age. […] The incidence of retinoblastoma is constant worldwide at 1 in every 16,000 live births. About 40% of cases are diagnosed in the first year of life. Incidence rates drop to a very low rate after 5 years of age. […] Mutations in both alleles of the Rb1 gene are needed for retinoblastoma to develop. Hereditary retinoblastoma is caused by a heterozygous germline mutation on one allele AND a somatic mutation on the other allele of the Rb1 gene on chromosome 13q14. […] Most children are diagnosed before the age of 5 years: In the UK, bilateral cases usually present within the first year with the average age at diagnosis being 9 months. Diagnosis of unilateral cases peaks between 24 and 30 months.

• #33 Retinoblastoma | Doctor

  https://patient.info/doctor/retinoblastoma-pro

  Retinoblastoma (Rb) is an embryonal tumour of the retina and is the most common malignancy of the eye in children. Onset generally occurs between the third month of pregnancy and 5 years of age. […] The incidence of retinoblastoma is constant worldwide at 1 in every 16,000 live births. About 40% of cases are diagnosed in the first year of life. Incidence rates drop to a very low rate after 5 years of age. […] Mutations in both alleles of the Rb1 gene are needed for retinoblastoma to develop. Hereditary retinoblastoma is caused by a heterozygous germline mutation on one allele AND a somatic mutation on the other allele of the Rb1 gene on chromosome 13q14. […] Most children are diagnosed before the age of 5 years: In the UK, bilateral cases usually present within the first year with the average age at diagnosis being 9 months. Diagnosis of unilateral cases peaks between 24 and 30 months.

• #34 Retinoblastoma: Clinical presentation, evaluation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/retinoblastoma-clinical-presentation-evaluation-and-diagnosis

  Retinoblastoma is the most common primary intraocular malignancy of childhood and accounts for 10 to 15 percent of cancers that occur within the first year of life. Retinoblastoma typically presents as leukocoria in a child under the age of three years. Untreated retinoblastoma is a deadly disease; however, with advances in treatment, overall survival in the contemporary era is >95 percent. Prompt referral to an ocular oncologist and appropriate management by a multidisciplinary team are necessary to optimize overall and ocular survival and visual outcomes. […] The clinical presentation, evaluation, and diagnosis of retinoblastoma are reviewed here. […] Patients with heritable retinoblastoma must attain a second somatic mutation of the RB1 gene in the retina in order to initiate tumorigenesis. […] Nonheritable (also called nonhereditary, nonfamilial, sporadic, or somatic) retinoblastoma results from somatic mutations only.

• #35 Retinoblastoma Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1222849-workup

  Blood counts and electrolyte determination as well as urinalysis and liver function tests are useful in excluding other conditions confused with retinoblastoma. […] Blood specimens should be taken not only from the patient but also from the parents and any siblings for DNA analysis, which could aid in genetic counseling. […] There are direct and indirect methods in the analysis of the retinoblastoma gene. The direct method aims to find the initial mutation that precipitated the development of the tumor; then, it is determined whether that mutation is in the germline of the affected patient. Indirect methods can be used in cases where the initial mutation cannot be located or it is uncertain whether it exists. […] Sources of DNA to be evaluated directly are either from tumor cells or leukocytes.

• #36 Retinoblastoma Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1222849-workup

  Blood counts and electrolyte determination as well as urinalysis and liver function tests are useful in excluding other conditions confused with retinoblastoma. […] Blood specimens should be taken not only from the patient but also from the parents and any siblings for DNA analysis, which could aid in genetic counseling. […] There are direct and indirect methods in the analysis of the retinoblastoma gene. The direct method aims to find the initial mutation that precipitated the development of the tumor; then, it is determined whether that mutation is in the germline of the affected patient. Indirect methods can be used in cases where the initial mutation cannot be located or it is uncertain whether it exists. […] Sources of DNA to be evaluated directly are either from tumor cells or leukocytes.

• #37 Retinoblastoma Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1222849-workup

  Blood counts and electrolyte determination as well as urinalysis and liver function tests are useful in excluding other conditions confused with retinoblastoma. […] Blood specimens should be taken not only from the patient but also from the parents and any siblings for DNA analysis, which could aid in genetic counseling. […] There are direct and indirect methods in the analysis of the retinoblastoma gene. The direct method aims to find the initial mutation that precipitated the development of the tumor; then, it is determined whether that mutation is in the germline of the affected patient. Indirect methods can be used in cases where the initial mutation cannot be located or it is uncertain whether it exists. […] Sources of DNA to be evaluated directly are either from tumor cells or leukocytes.

• #38 Retinoblastoma Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1222849-workup

  Blood counts and electrolyte determination as well as urinalysis and liver function tests are useful in excluding other conditions confused with retinoblastoma. […] Blood specimens should be taken not only from the patient but also from the parents and any siblings for DNA analysis, which could aid in genetic counseling. […] There are direct and indirect methods in the analysis of the retinoblastoma gene. The direct method aims to find the initial mutation that precipitated the development of the tumor; then, it is determined whether that mutation is in the germline of the affected patient. Indirect methods can be used in cases where the initial mutation cannot be located or it is uncertain whether it exists. […] Sources of DNA to be evaluated directly are either from tumor cells or leukocytes.

• #39 Retinoblastoma Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1222849-workup

  Deletions or rearrangements of the retinoblastoma gene can be detected by either karyotyping or Southern blotting techniques. […] Point mutations in the retinoblastoma gene can be detected by the following techniques: ribonuclease protection, denaturing gradient gel electrophoresis, single-strand conformation polymorphism, or direct DNA sequencing amplified by the polymerase chain reaction. […] Retinoblastomas also may arise by hypermethylation of the promoter region of the retinoblastoma gene, which deactivates this gene but does not alter the DNA sequence. This also can be detected by Southern blot analysis. […] Assays of aqueous humor enzyme levels could offer useful information to patients with suspected retinoblastoma. Lactate dehydrogenase (LDH) is a glycolytic enzyme that uses glucose as an energy source.

• #40 Tests for Retinoblastoma | Diagnosing Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/detection-diagnosis-staging/how-diagnosed.html

  Imaging tests may be done for a number of reasons, including: To help tell if a tumor in the eye is likely to be a retinoblastoma. […] Ultrasound is one of the most common imaging tests to confirm a child has retinoblastoma. […] An MRI scan creates detailed images using radio waves and strong magnets (instead of x-rays). MRI scans often are used for retinoblastomas because they provide very detailed images of the eye and surrounding structures, without using radiation. […] A blood test can be done to look for the RB1 gene change in cells outside the eye. This test can usually tell if the child has the heritable form of retinoblastoma. […] Knowing which form a child has important, because children with heritable retinoblastoma have an increased risk for developing other cancers later in life, and are more likely to develop cancer if they get radiation therapy.

• #41 Tests for Retinoblastoma | Diagnosing Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/detection-diagnosis-staging/how-diagnosed.html

  Imaging tests may be done for a number of reasons, including: To help tell if a tumor in the eye is likely to be a retinoblastoma. […] Ultrasound is one of the most common imaging tests to confirm a child has retinoblastoma. […] An MRI scan creates detailed images using radio waves and strong magnets (instead of x-rays). MRI scans often are used for retinoblastomas because they provide very detailed images of the eye and surrounding structures, without using radiation. […] A blood test can be done to look for the RB1 gene change in cells outside the eye. This test can usually tell if the child has the heritable form of retinoblastoma. […] Knowing which form a child has important, because children with heritable retinoblastoma have an increased risk for developing other cancers later in life, and are more likely to develop cancer if they get radiation therapy.

• #42 Tests for Retinoblastoma | Diagnosing Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/detection-diagnosis-staging/how-diagnosed.html

  Imaging tests may be done for a number of reasons, including: To help tell if a tumor in the eye is likely to be a retinoblastoma. […] Ultrasound is one of the most common imaging tests to confirm a child has retinoblastoma. […] An MRI scan creates detailed images using radio waves and strong magnets (instead of x-rays). MRI scans often are used for retinoblastomas because they provide very detailed images of the eye and surrounding structures, without using radiation. […] A blood test can be done to look for the RB1 gene change in cells outside the eye. This test can usually tell if the child has the heritable form of retinoblastoma. […] Knowing which form a child has important, because children with heritable retinoblastoma have an increased risk for developing other cancers later in life, and are more likely to develop cancer if they get radiation therapy.

• #43 Diagnosing Retinoblastoma | NYU Langone Health

  https://nyulangone.org/conditions/retinoblastoma-in-children/diagnosis

  Retinoblastoma is most commonly identified by a condition called leukocoria, an absence of the normal red reflex in the eye that causes the pupil to appear white instead of red and is most easily seen when a light is shined into the eyes. […] If your child’s doctor suspects retinoblastoma, an ophthalmologist at Hassenfeld Children’s Hospital at NYU Langone who specializes in the treatment of eye tumors examines your child’s eyes. A pediatric oncologist—a doctor who specializes in treating children with cancer—takes a medical history and performs a physical exam. Then he or she orders one or more tests, which can help determine the best treatment plan. […] Doctors can use tumor samples collected during surgery or a blood test to look for mutations, or changes, in the gene RB1. This gene is the blueprint for a tumor suppressor protein present in cells in the eye and in tissues elsewhere in the body. Where on the gene this mutation occurs and whether it’s present at birth determine whether a child has the inherited form of retinoblastoma, which increases the risk of new tumors developing after treatment. […] The results of genetic testing not only affect the treatment for retinoblastoma but may also indicate the risk for this cancer in the child’s family members.

• #44 Liquid Biopsy for Retinoblastoma Diagnosis | Children’s Hospital Los Angeles

  https://www.chla.org/vision-center/diagnosis-and-treatment/liquid-biopsy-retinoblastoma-diagnosis

  Liquid biopsy for retinoblastoma is an innovative technique used to detect childhood eye cancer sooner. […] Liquid biopsy provides a safe way to get detailed genetic information about the cancer cells. […] A liquid biopsy tests a sample of fluid taken from the body to look for cancer markers. […] The information we learn from that sample helps us provide a prognosis (outlook) and individualized treatment plan for each patient and each eye. […] We use sequencing techniques to look for cancer markers in a sample of fluid taken from the aqueous humor. […] The test detects changes in the number of copies of a chromosome, gene fusions and gene mutations that commonly occur in pediatric tumors. […] A liquid biopsy of the eye fluid offers a safe way to identify the molecular characteristics of childhood eye tumors.

• #45 Liquid Biopsy for Retinoblastoma Diagnosis | Children’s Hospital Los Angeles

  https://www.chla.org/vision-center/diagnosis-and-treatment/liquid-biopsy-retinoblastoma-diagnosis

  Liquid biopsy for retinoblastoma is an innovative technique used to detect childhood eye cancer sooner. […] Liquid biopsy provides a safe way to get detailed genetic information about the cancer cells. […] A liquid biopsy tests a sample of fluid taken from the body to look for cancer markers. […] The information we learn from that sample helps us provide a prognosis (outlook) and individualized treatment plan for each patient and each eye. […] We use sequencing techniques to look for cancer markers in a sample of fluid taken from the aqueous humor. […] The test detects changes in the number of copies of a chromosome, gene fusions and gene mutations that commonly occur in pediatric tumors. […] A liquid biopsy of the eye fluid offers a safe way to identify the molecular characteristics of childhood eye tumors.

• #46 Liquid Biopsy for Retinoblastoma Diagnosis | Children’s Hospital Los Angeles

  https://www.chla.org/vision-center/diagnosis-and-treatment/liquid-biopsy-retinoblastoma-diagnosis

  Liquid biopsy for retinoblastoma is an innovative technique used to detect childhood eye cancer sooner. […] Liquid biopsy provides a safe way to get detailed genetic information about the cancer cells. […] A liquid biopsy tests a sample of fluid taken from the body to look for cancer markers. […] The information we learn from that sample helps us provide a prognosis (outlook) and individualized treatment plan for each patient and each eye. […] We use sequencing techniques to look for cancer markers in a sample of fluid taken from the aqueous humor. […] The test detects changes in the number of copies of a chromosome, gene fusions and gene mutations that commonly occur in pediatric tumors. […] A liquid biopsy of the eye fluid offers a safe way to identify the molecular characteristics of childhood eye tumors.

• #47 Liquid Biopsy for Retinoblastoma Diagnosis | Children’s Hospital Los Angeles

  https://www.chla.org/vision-center/diagnosis-and-treatment/liquid-biopsy-retinoblastoma-diagnosis

  Liquid biopsy for retinoblastoma is an innovative technique used to detect childhood eye cancer sooner. […] Liquid biopsy provides a safe way to get detailed genetic information about the cancer cells. […] A liquid biopsy tests a sample of fluid taken from the body to look for cancer markers. […] The information we learn from that sample helps us provide a prognosis (outlook) and individualized treatment plan for each patient and each eye. […] We use sequencing techniques to look for cancer markers in a sample of fluid taken from the aqueous humor. […] The test detects changes in the number of copies of a chromosome, gene fusions and gene mutations that commonly occur in pediatric tumors. […] A liquid biopsy of the eye fluid offers a safe way to identify the molecular characteristics of childhood eye tumors.

• #48 Liquid Biopsy for Retinoblastoma Diagnosis | Children’s Hospital Los Angeles

  https://www.chla.org/vision-center/diagnosis-and-treatment/liquid-biopsy-retinoblastoma-diagnosis

  Liquid biopsy for retinoblastoma is an innovative technique used to detect childhood eye cancer sooner. […] Liquid biopsy provides a safe way to get detailed genetic information about the cancer cells. […] A liquid biopsy tests a sample of fluid taken from the body to look for cancer markers. […] The information we learn from that sample helps us provide a prognosis (outlook) and individualized treatment plan for each patient and each eye. […] We use sequencing techniques to look for cancer markers in a sample of fluid taken from the aqueous humor. […] The test detects changes in the number of copies of a chromosome, gene fusions and gene mutations that commonly occur in pediatric tumors. […] A liquid biopsy of the eye fluid offers a safe way to identify the molecular characteristics of childhood eye tumors.

• #49 Liquid Biopsy for Retinoblastoma Diagnosis | Children’s Hospital Los Angeles

  https://www.chla.org/vision-center/diagnosis-and-treatment/liquid-biopsy-retinoblastoma-diagnosis

  Liquid biopsy for retinoblastoma is an innovative technique used to detect childhood eye cancer sooner. […] Liquid biopsy provides a safe way to get detailed genetic information about the cancer cells. […] A liquid biopsy tests a sample of fluid taken from the body to look for cancer markers. […] The information we learn from that sample helps us provide a prognosis (outlook) and individualized treatment plan for each patient and each eye. […] We use sequencing techniques to look for cancer markers in a sample of fluid taken from the aqueous humor. […] The test detects changes in the number of copies of a chromosome, gene fusions and gene mutations that commonly occur in pediatric tumors. […] A liquid biopsy of the eye fluid offers a safe way to identify the molecular characteristics of childhood eye tumors.

• #50 Liquid Biopsy for Retinoblastoma Diagnosis | Children’s Hospital Los Angeles

  https://www.chla.org/vision-center/diagnosis-and-treatment/liquid-biopsy-retinoblastoma-diagnosis

  Liquid biopsy for retinoblastoma is an innovative technique used to detect childhood eye cancer sooner. […] Liquid biopsy provides a safe way to get detailed genetic information about the cancer cells. […] A liquid biopsy tests a sample of fluid taken from the body to look for cancer markers. […] The information we learn from that sample helps us provide a prognosis (outlook) and individualized treatment plan for each patient and each eye. […] We use sequencing techniques to look for cancer markers in a sample of fluid taken from the aqueous humor. […] The test detects changes in the number of copies of a chromosome, gene fusions and gene mutations that commonly occur in pediatric tumors. […] A liquid biopsy of the eye fluid offers a safe way to identify the molecular characteristics of childhood eye tumors.

• #51 Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour | British Journal of Ophthalmology

  https://bjo.bmj.com/content/103/5/721

  The distinction between germline and somatic mutations is vital, as germline cases need close monitoring with short-term risk of new ocular tumours and long-term risk of second systemic cancers. […] The results of our study, and that of Berry et al, there appears to be a clear clinical benefit of diagnostic AH taps in apparent non-genetic retinoblastoma where the affected eye is retained.

• #52 Retinoblastoma | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/28458

  Accurate staging and classification are essential for determining treatment strategies and predicting outcomes. […] Retinoblastoma is classified using the International Intraocular Retinoblastoma Classification (IIRC) for intraocular tumors and the Tumor, Node, Metastasis (TNM) system for extraocular disease. […] The IIRC categorizes retinoblastoma into 5 groups (AE) based on tumor size, location, and extent. […] Group A represents the least severe cases, and group E comprises advanced disease requiring enucleation. […] The TNM system accounts for systemic spread, including lymph node involvement and distant metastases.

• #53 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Blood and tumor samples can be tested to determine whether a patient with retinoblastoma has a germline or somatic variant in the RB1 gene. Once the patient’s genetic variant has been identified, other family members can be screened directly for the variant with targeted sequencing. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment. For this reason, these patients need to be examined frequently. It is common practice for examinations to occur every 2 to 4 months for at least 28 months. The interval between examinations is based on the stability of the disease and age of the child (i.e., less frequent visits as the child ages). […] While retinoblastoma is a highly curable disease, the challenge is to preserve life and to prevent the loss of an eye, blindness, and other serious effects of treatment that reduce the patient’s life span or quality of life. […] The treatment options for intraocular, extraocular, and recurrent retinoblastoma are described in Table 13.

• #54 Retinoblastoma | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/28458

  Accurate staging and classification are essential for determining treatment strategies and predicting outcomes. […] Retinoblastoma is classified using the International Intraocular Retinoblastoma Classification (IIRC) for intraocular tumors and the Tumor, Node, Metastasis (TNM) system for extraocular disease. […] The IIRC categorizes retinoblastoma into 5 groups (AE) based on tumor size, location, and extent. […] Group A represents the least severe cases, and group E comprises advanced disease requiring enucleation. […] The TNM system accounts for systemic spread, including lymph node involvement and distant metastases.

• #55 Retinoblastoma | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/28458

  Accurate staging and classification are essential for determining treatment strategies and predicting outcomes. […] Retinoblastoma is classified using the International Intraocular Retinoblastoma Classification (IIRC) for intraocular tumors and the Tumor, Node, Metastasis (TNM) system for extraocular disease. […] The IIRC categorizes retinoblastoma into 5 groups (AE) based on tumor size, location, and extent. […] Group A represents the least severe cases, and group E comprises advanced disease requiring enucleation. […] The TNM system accounts for systemic spread, including lymph node involvement and distant metastases.

• #56 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Patients with suspected extraocular extension by imaging or high-risk pathology in the enucleated eye (i.e., massive choroidal invasion or involvement of the sclera or the optic nerve beyond the lamina cribrosa) may need to be evaluated for the presence of metastatic disease. Patients presenting with these pathological features in the enucleated eye are at high risk of developing metastases. In these cases, the following procedures may be performed: Bone scintigraphy. Bone marrow aspiration and biopsy. Lumbar puncture. […] Genetic counseling is an integral part of the management of patients with retinoblastoma and their families, regardless of clinical presentation. Counseling includes a discussion of the main forms of retinoblastoma, which helps parents understand the genetic consequences of each form of retinoblastoma and estimate the risk of disease in family members. Counseling also includes guidance toward appropriate screening for both patients and their families, especially if the risk of developing a second primary malignancy is increased.

• #57 Diagnosis of retinoblastoma | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/retinoblastoma/diagnosis

  A computed tomography (CT) scan uses special x-ray equipment to make 3D and cross-sectional images of organs, tissues, bones and blood vessels inside the body. […] A bone scan uses bone-seeking radioactive materials called radiopharmaceuticals and a computer to create a picture of the bones. It is used to see if cancer has spread to the skull or other bones. […] During bone marrow aspiration and biopsy, the doctor removes tissues or cells from the bone marrow to be tested in a lab. Bone marrow aspiration and biopsy are not done very often but may be done to see if cancer has spread to the bone marrow.

• #58 Diagnosis of retinoblastoma | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/retinoblastoma/diagnosis

  A computed tomography (CT) scan uses special x-ray equipment to make 3D and cross-sectional images of organs, tissues, bones and blood vessels inside the body. […] A bone scan uses bone-seeking radioactive materials called radiopharmaceuticals and a computer to create a picture of the bones. It is used to see if cancer has spread to the skull or other bones. […] During bone marrow aspiration and biopsy, the doctor removes tissues or cells from the bone marrow to be tested in a lab. Bone marrow aspiration and biopsy are not done very often but may be done to see if cancer has spread to the bone marrow.

• #59 Retinoblastoma Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1222849-workup

  A bone marrow aspiration and biopsy could be performed as well as lumbar puncture with cytocentrifuge examination for tumor cells. These may prove useful in the early diagnosis of distant spread since the primary mode of spread of retinoblastoma is hematogenous to the bone marrow and back through the optic nerve into the cerebrospinal fluid (CSF). […] The classic histologic findings of retinoblastoma are Flexner-Wintersteiner rosettes and less commonly fleurettes. […] The International Classification for Intraocular Retinoblastoma is the newer retinoblastoma staging system. In this staging system, intraocular retinoblastoma is differentiated into 5 groups, from A to E. A indicates a better prognosis, and E indicates a poorer prognosis using existing treatment modalities.

• #60 How Do We Achieve Early Diagnosis of Retinoblastoma? – WE C Hope

  https://wechope.org/retinoblastoma/how-do-we-achieve-early-diagnosis-of-retinoblastoma/

  Early diagnosis of retinoblastoma is vital to save a childs life and sight with minimally invasive therapies. […] Retinoblastoma specialists agree that early diagnosis of eye cancer is a childs best hope of survival, retaining some vision or their eye. In many parts of the world, early diagnosis is a childs only hope of cure. […] Early detection is one of the greatest challenges facing the retinoblastoma world. […] Many solutions have been proposed, including the use of complex retinal function and imaging technology, and non-invasive mandated screening of the red reflex. […] There is a general belief that regular eye exams, including red reflex tests, performed by primary care physicians will dramatically improve early detection of retinoblastoma. […] Mandated screening for retinoblastoma also relies on the primary doctor performing the red reflex test correctly.

• #61 How Do We Achieve Early Diagnosis of Retinoblastoma? – WE C Hope

  https://wechope.org/retinoblastoma/how-do-we-achieve-early-diagnosis-of-retinoblastoma/

  Early diagnosis of retinoblastoma is vital to save a childs life and sight with minimally invasive therapies. […] Retinoblastoma specialists agree that early diagnosis of eye cancer is a childs best hope of survival, retaining some vision or their eye. In many parts of the world, early diagnosis is a childs only hope of cure. […] Early detection is one of the greatest challenges facing the retinoblastoma world. […] Many solutions have been proposed, including the use of complex retinal function and imaging technology, and non-invasive mandated screening of the red reflex. […] There is a general belief that regular eye exams, including red reflex tests, performed by primary care physicians will dramatically improve early detection of retinoblastoma. […] Mandated screening for retinoblastoma also relies on the primary doctor performing the red reflex test correctly.

• #62 How Do We Achieve Early Diagnosis of Retinoblastoma? – WE C Hope

  https://wechope.org/retinoblastoma/how-do-we-achieve-early-diagnosis-of-retinoblastoma/

  Early diagnosis of retinoblastoma is vital to save a childs life and sight with minimally invasive therapies. […] Retinoblastoma specialists agree that early diagnosis of eye cancer is a childs best hope of survival, retaining some vision or their eye. In many parts of the world, early diagnosis is a childs only hope of cure. […] Early detection is one of the greatest challenges facing the retinoblastoma world. […] Many solutions have been proposed, including the use of complex retinal function and imaging technology, and non-invasive mandated screening of the red reflex. […] There is a general belief that regular eye exams, including red reflex tests, performed by primary care physicians will dramatically improve early detection of retinoblastoma. […] Mandated screening for retinoblastoma also relies on the primary doctor performing the red reflex test correctly.

• #63 How Do We Achieve Early Diagnosis of Retinoblastoma? – WE C Hope

  https://wechope.org/retinoblastoma/how-do-we-achieve-early-diagnosis-of-retinoblastoma/

  Early diagnosis of retinoblastoma is vital to save a childs life and sight with minimally invasive therapies. […] Retinoblastoma specialists agree that early diagnosis of eye cancer is a childs best hope of survival, retaining some vision or their eye. In many parts of the world, early diagnosis is a childs only hope of cure. […] Early detection is one of the greatest challenges facing the retinoblastoma world. […] Many solutions have been proposed, including the use of complex retinal function and imaging technology, and non-invasive mandated screening of the red reflex. […] There is a general belief that regular eye exams, including red reflex tests, performed by primary care physicians will dramatically improve early detection of retinoblastoma. […] Mandated screening for retinoblastoma also relies on the primary doctor performing the red reflex test correctly.

• #64 How Do We Achieve Early Diagnosis of Retinoblastoma? – WE C Hope

  https://wechope.org/retinoblastoma/how-do-we-achieve-early-diagnosis-of-retinoblastoma/

  Early diagnosis of retinoblastoma is vital to save a childs life and sight with minimally invasive therapies. […] Retinoblastoma specialists agree that early diagnosis of eye cancer is a childs best hope of survival, retaining some vision or their eye. In many parts of the world, early diagnosis is a childs only hope of cure. […] Early detection is one of the greatest challenges facing the retinoblastoma world. […] Many solutions have been proposed, including the use of complex retinal function and imaging technology, and non-invasive mandated screening of the red reflex. […] There is a general belief that regular eye exams, including red reflex tests, performed by primary care physicians will dramatically improve early detection of retinoblastoma. […] Mandated screening for retinoblastoma also relies on the primary doctor performing the red reflex test correctly.

• #65 How Do We Achieve Early Diagnosis of Retinoblastoma? – WE C Hope

  https://wechope.org/retinoblastoma/how-do-we-achieve-early-diagnosis-of-retinoblastoma/

  Early diagnosis of retinoblastoma is vital to save a childs life and sight with minimally invasive therapies. […] Retinoblastoma specialists agree that early diagnosis of eye cancer is a childs best hope of survival, retaining some vision or their eye. In many parts of the world, early diagnosis is a childs only hope of cure. […] Early detection is one of the greatest challenges facing the retinoblastoma world. […] Many solutions have been proposed, including the use of complex retinal function and imaging technology, and non-invasive mandated screening of the red reflex. […] There is a general belief that regular eye exams, including red reflex tests, performed by primary care physicians will dramatically improve early detection of retinoblastoma. […] Mandated screening for retinoblastoma also relies on the primary doctor performing the red reflex test correctly.

• #66 How Do We Achieve Early Diagnosis of Retinoblastoma? – WE C Hope

  https://wechope.org/retinoblastoma/how-do-we-achieve-early-diagnosis-of-retinoblastoma/

  Educating primary health workers to listen to parent and carer concerns, and refer promptly to an ophthalmologist, is likely to be far more effective in achieving early diagnosis. […] Retinoblastoma advocacy charities in several countries have successfully campaigned to include information about early signs of retinoblastoma in Ministry of Health produced materials provided to expectant mothers. […] Early diagnosis is only one part of the challenge. […] Early diagnosis becomes meaningless if a child is referred to a non-specialist hospital because an insurance provider dictates where they go. […] Early diagnosis is a hollow victory if treatment options are not based on clear evidence of value and risk to the whole child. […] Early diagnosis is squandered when eye-salvage therapy continues beyond the point of being safe.

• #67 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Patients with suspected extraocular extension by imaging or high-risk pathology in the enucleated eye (i.e., massive choroidal invasion or involvement of the sclera or the optic nerve beyond the lamina cribrosa) may need to be evaluated for the presence of metastatic disease. Patients presenting with these pathological features in the enucleated eye are at high risk of developing metastases. In these cases, the following procedures may be performed: Bone scintigraphy. Bone marrow aspiration and biopsy. Lumbar puncture. […] Genetic counseling is an integral part of the management of patients with retinoblastoma and their families, regardless of clinical presentation. Counseling includes a discussion of the main forms of retinoblastoma, which helps parents understand the genetic consequences of each form of retinoblastoma and estimate the risk of disease in family members. Counseling also includes guidance toward appropriate screening for both patients and their families, especially if the risk of developing a second primary malignancy is increased.

• #68 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Patients with suspected extraocular extension by imaging or high-risk pathology in the enucleated eye (i.e., massive choroidal invasion or involvement of the sclera or the optic nerve beyond the lamina cribrosa) may need to be evaluated for the presence of metastatic disease. Patients presenting with these pathological features in the enucleated eye are at high risk of developing metastases. In these cases, the following procedures may be performed: Bone scintigraphy. Bone marrow aspiration and biopsy. Lumbar puncture. […] Genetic counseling is an integral part of the management of patients with retinoblastoma and their families, regardless of clinical presentation. Counseling includes a discussion of the main forms of retinoblastoma, which helps parents understand the genetic consequences of each form of retinoblastoma and estimate the risk of disease in family members. Counseling also includes guidance toward appropriate screening for both patients and their families, especially if the risk of developing a second primary malignancy is increased.

• #69 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Patients with suspected extraocular extension by imaging or high-risk pathology in the enucleated eye (i.e., massive choroidal invasion or involvement of the sclera or the optic nerve beyond the lamina cribrosa) may need to be evaluated for the presence of metastatic disease. Patients presenting with these pathological features in the enucleated eye are at high risk of developing metastases. In these cases, the following procedures may be performed: Bone scintigraphy. Bone marrow aspiration and biopsy. Lumbar puncture. […] Genetic counseling is an integral part of the management of patients with retinoblastoma and their families, regardless of clinical presentation. Counseling includes a discussion of the main forms of retinoblastoma, which helps parents understand the genetic consequences of each form of retinoblastoma and estimate the risk of disease in family members. Counseling also includes guidance toward appropriate screening for both patients and their families, especially if the risk of developing a second primary malignancy is increased.

• #70 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Blood and tumor samples can be tested to determine whether a patient with retinoblastoma has a germline or somatic variant in the RB1 gene. Once the patient’s genetic variant has been identified, other family members can be screened directly for the variant with targeted sequencing. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment. For this reason, these patients need to be examined frequently. It is common practice for examinations to occur every 2 to 4 months for at least 28 months. The interval between examinations is based on the stability of the disease and age of the child (i.e., less frequent visits as the child ages). […] While retinoblastoma is a highly curable disease, the challenge is to preserve life and to prevent the loss of an eye, blindness, and other serious effects of treatment that reduce the patient’s life span or quality of life. […] The treatment options for intraocular, extraocular, and recurrent retinoblastoma are described in Table 13.

• #71 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Blood and tumor samples can be tested to determine whether a patient with retinoblastoma has a germline or somatic variant in the RB1 gene. Once the patient’s genetic variant has been identified, other family members can be screened directly for the variant with targeted sequencing. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment. For this reason, these patients need to be examined frequently. It is common practice for examinations to occur every 2 to 4 months for at least 28 months. The interval between examinations is based on the stability of the disease and age of the child (i.e., less frequent visits as the child ages). […] While retinoblastoma is a highly curable disease, the challenge is to preserve life and to prevent the loss of an eye, blindness, and other serious effects of treatment that reduce the patient’s life span or quality of life. […] The treatment options for intraocular, extraocular, and recurrent retinoblastoma are described in Table 13.

• #72 Retinoblastoma (brief information)

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/solid_tumours/retinoblastoma/brief_information/index_eng.html

  As of today, children in families with retinoblastoma (familial retinoblastoma) can be tested for the defective gene immediately after birth (the probability of having inherited it is 50 %). Precondition is, that the mutation that is harboured in the family has been identified. This is not always possible, since the alterations within the retinoblastoma gene can be very heterogeneous. In case the child has inherited the mutations (or if this is uncertain), an eye exam is strongly recommended in order to detect and treat tumours as early as possible. Close monitoring should be maintained as long as the immature retina cells, which tend to degenerate, have fully differentiated, which means until about the childs fifth year of life. Affected individuals will also be followed-up regularly until adulthood.

• #73 Retinoblastoma (brief information)

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/solid_tumours/retinoblastoma/brief_information/index_eng.html

  As of today, children in families with retinoblastoma (familial retinoblastoma) can be tested for the defective gene immediately after birth (the probability of having inherited it is 50 %). Precondition is, that the mutation that is harboured in the family has been identified. This is not always possible, since the alterations within the retinoblastoma gene can be very heterogeneous. In case the child has inherited the mutations (or if this is uncertain), an eye exam is strongly recommended in order to detect and treat tumours as early as possible. Close monitoring should be maintained as long as the immature retina cells, which tend to degenerate, have fully differentiated, which means until about the childs fifth year of life. Affected individuals will also be followed-up regularly until adulthood.

• #74 Retinoblastoma (brief information)

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/solid_tumours/retinoblastoma/brief_information/index_eng.html

  As of today, children in families with retinoblastoma (familial retinoblastoma) can be tested for the defective gene immediately after birth (the probability of having inherited it is 50 %). Precondition is, that the mutation that is harboured in the family has been identified. This is not always possible, since the alterations within the retinoblastoma gene can be very heterogeneous. In case the child has inherited the mutations (or if this is uncertain), an eye exam is strongly recommended in order to detect and treat tumours as early as possible. Close monitoring should be maintained as long as the immature retina cells, which tend to degenerate, have fully differentiated, which means until about the childs fifth year of life. Affected individuals will also be followed-up regularly until adulthood.

• #75 Retinoblastoma (brief information)

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/solid_tumours/retinoblastoma/brief_information/index_eng.html

  As of today, children in families with retinoblastoma (familial retinoblastoma) can be tested for the defective gene immediately after birth (the probability of having inherited it is 50 %). Precondition is, that the mutation that is harboured in the family has been identified. This is not always possible, since the alterations within the retinoblastoma gene can be very heterogeneous. In case the child has inherited the mutations (or if this is uncertain), an eye exam is strongly recommended in order to detect and treat tumours as early as possible. Close monitoring should be maintained as long as the immature retina cells, which tend to degenerate, have fully differentiated, which means until about the childs fifth year of life. Affected individuals will also be followed-up regularly until adulthood.

• #76 Prenatal diagnosis of retinoblastomas: a scoping review | IJGM

  https://www.dovepress.com/prenatal-diagnosis-of-retinoblastomas-a-scoping-review-peer-reviewed-fulltext-article-IJGM

  Conclusion: Prenatal testing for retinoblastoma in high-risk families is important for everyone in the family. For the parents, prenatal screening has been shown to improve their family planning decisions and psychological well-being as they can mentally prepare beforehand and make informed decisions. More importantly, these practices have shown to yield better treatment and vision outcomes in the newborn. […] Some patients may have no presenting signs other than a positive family history. Therefore, it is important for families with a history of retinoblastoma to receive genetic testing and counseling to make informed family planning and reproductive decisions. If the couple decides to have children, it is strongly recommended for them to undergo prenatal retinoblastoma screening and diagnosis of the child to enhance treatment efforts for the preservation of vision and the globe of the newborn.

• #77 Prenatal diagnosis of retinoblastomas: a scoping review | IJGM

  https://www.dovepress.com/prenatal-diagnosis-of-retinoblastomas-a-scoping-review-peer-reviewed-fulltext-article-IJGM

  Conclusion: Prenatal testing for retinoblastoma in high-risk families is important for everyone in the family. For the parents, prenatal screening has been shown to improve their family planning decisions and psychological well-being as they can mentally prepare beforehand and make informed decisions. More importantly, these practices have shown to yield better treatment and vision outcomes in the newborn. […] Some patients may have no presenting signs other than a positive family history. Therefore, it is important for families with a history of retinoblastoma to receive genetic testing and counseling to make informed family planning and reproductive decisions. If the couple decides to have children, it is strongly recommended for them to undergo prenatal retinoblastoma screening and diagnosis of the child to enhance treatment efforts for the preservation of vision and the globe of the newborn.

• #78 Prenatal diagnosis of retinoblastomas: a scoping review | IJGM

  https://www.dovepress.com/prenatal-diagnosis-of-retinoblastomas-a-scoping-review-peer-reviewed-fulltext-article-IJGM

  Conclusion: Prenatal testing for retinoblastoma in high-risk families is important for everyone in the family. For the parents, prenatal screening has been shown to improve their family planning decisions and psychological well-being as they can mentally prepare beforehand and make informed decisions. More importantly, these practices have shown to yield better treatment and vision outcomes in the newborn. […] Some patients may have no presenting signs other than a positive family history. Therefore, it is important for families with a history of retinoblastoma to receive genetic testing and counseling to make informed family planning and reproductive decisions. If the couple decides to have children, it is strongly recommended for them to undergo prenatal retinoblastoma screening and diagnosis of the child to enhance treatment efforts for the preservation of vision and the globe of the newborn.

• #79 Prenatal diagnosis of retinoblastomas: a scoping review | IJGM

  https://www.dovepress.com/prenatal-diagnosis-of-retinoblastomas-a-scoping-review-peer-reviewed-fulltext-article-IJGM

  If the embryo has a positive diagnosis of retinoblastoma, healthcare providers along with the family can work together on designing the best course of treatment for the child. Early intervention measures could lead to an early induction of the fetus to prevent continuous growth of the tumor, and provide earlier curative treatment. […] Prenatal diagnosis of retinoblastoma leads to a greater ability to have a better guided family planning process if families at risk are given information about the status of their potential child’s risk. […] The literature supports prenatal diagnosis and early treatment of familial retinoblastoma. Thus, healthcare professionals share the responsibility to communicate the benefits of genetic testing and prenatal diagnosis, as well as the risks of delayed treatment to couples with a positive history of retinoblastoma that want to conceive.

• #80 Prenatal diagnosis of retinoblastomas: a scoping review | IJGM

  https://www.dovepress.com/prenatal-diagnosis-of-retinoblastomas-a-scoping-review-peer-reviewed-fulltext-article-IJGM

  If the embryo has a positive diagnosis of retinoblastoma, healthcare providers along with the family can work together on designing the best course of treatment for the child. Early intervention measures could lead to an early induction of the fetus to prevent continuous growth of the tumor, and provide earlier curative treatment. […] Prenatal diagnosis of retinoblastoma leads to a greater ability to have a better guided family planning process if families at risk are given information about the status of their potential child’s risk. […] The literature supports prenatal diagnosis and early treatment of familial retinoblastoma. Thus, healthcare professionals share the responsibility to communicate the benefits of genetic testing and prenatal diagnosis, as well as the risks of delayed treatment to couples with a positive history of retinoblastoma that want to conceive.

• #81 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is the most prevalent primary intraocular malignancy in children, representing a critical challenge in pediatric oncology and ophthalmology. Early recognition and appropriate management of this condition are paramount to preserving vision and improving survival outcomes. […] Diagnosis relies on clinical examination, fundoscopic findings, imaging (eg, ultrasound, magnetic resonance imaging, or computed tomography), and genetic testing. […] Retinoblastoma diagnosis relies on clinical examination, imaging, and molecular testing. Ophthalmic evaluation under anesthesia remains the gold standard, allowing detailed retinal assessment with indirect ophthalmoscopy. Imaging modalities such as ultrasound, magnetic resonance imaging (MRI), and optical coherence tomography (OCT) help confirm the diagnosis, evaluate intraocular disease extent, and rule out extraocular or metastatic spread. MRI is particularly useful for detecting optic nerve invasion, a key prognostic factor.

• #82 Retinoblastoma Staging & Diagnosis | Group of Top Eye Hospitals In India | Centre For Sight

  https://www.centreforsight.net/blog/what-is-retinoblastoma-and-its-stages

  Diagnosing retinoblastoma involves a multidisciplinary approach, including comprehensive eye examination, imaging tests, and genetic testing. […] Early and accurate diagnosis is critical for initiating timely treatment and improving the chances of successful outcomes. […] Staging and diagnosing retinoblastoma are crucial steps in the management of this rare eye cancer. By accurately determining the stage of the tumor and identifying specific genetic mutations, healthcare professionals can develop personalized treatment plans to maximize the chances of a successful outcome.

• #83 Retinoblastoma (Eye Cancer in Children) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/retinoblastoma

  Most children with eye cancer who begin treatment before the retinoblastoma has spread beyond the eye are cured. A major goal of treatment in children with retinoblastoma is preserving vision. Most children retain their vision and more than 95 percent of children with retinoblastoma can be cured. […] All children with bilateral eye involvement and somewhere between 10 and 15 percent of children with unilateral disease have the hereditary form of retinoblastoma. To determine on a molecular level whether a person has the hereditary or nonhereditary form of retinoblastoma, a genetic test may be performed.

• #84 Diagnosis and prognosis | Share4Rare

  http://www.share4rare.org/library/retinoblastoma/diagnosis-and-prognosis

  RB survival rate has improved significantly over the past decades. Early diagnosis and less toxic curative therapies have led to an estimated RB disease-free survival rate at 5 years after diagnosis of 95% in most developed countries. However, chances of cure decrease if treatment is delayed, if the disease is resistant to treatments and progresses, or if the disease is metastatic at diagnosis or has metastasized.

• #85 Retinoblastoma | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/r/retinoblastoma

  Retinoblastoma is hard to diagnose early because the symptoms are not obvious. […] A careful exam is needed for accurate diagnosis. The exam will be done in the operating room so that the entire retina can be seen. An ophthalmologist (eye doctor) may help with this exam. This procedure is done under general anesthesia where medication is given so that your child is not awake and will not feel any pain.

• #86 Retinoblastoma: Evaluation and Diagnosis | Ento Key

  https://entokey.com/retinoblastoma-evaluation-and-diagnosis/

  Leukocoria or cats eye reflex 45 % Strabismus 25 % Inflammatory symptoms (preseptal cellulitis) 10 % Poor vision 10 % Screening due to family history 5 % Incidental detection 5 % Modified from Abramson et al. […] One of the major limitations to prompt treatment of retinoblastoma worldwide is access to health care. […] Consequently, a thorough and detailed assessment should be done on patients suspected of having retinoblastoma. […] A practical stepwise approach specifically to evaluate a child suspected to have retinoblastoma includes detailed history taking, initial office examination, and focused ophthalmic ultrasonography, followed by examination under anesthesia and neuroimaging if necessary. […] For a child suspected of having retinoblastoma, it is important to examine the patient and family promptly upon referral, and the initial consultation may be performed in an office setting.

• #87 Diagnosis and current management of retinoblastoma | Oncogene

  https://www.nature.com/articles/1209622

  Retinoblastoma represents the prototypic model for inherited cancers. The RB1 gene was the first tumor suppressor gene to be identified. It represents the most frequent primary eye cancer in children under 15 years old, habitually occurring in infancy, even in utero, but can be observed in older children or young adults. Many other retinal lesions may also simulate retinoblastoma. The two major presenting signs are leukocoria and strabismus, but other ocular or general signs may be observed. A highly malignant tumor, retinoblastoma can nowadays be cured. The heritable form, however, carries a high risk of second nonocular tumors. Treatment in the early stages of disease holds a good prognosis for survival and salvage of visual function. In very late stages, however, the prognosis for ocular function and even survival is jeopardized.

• #88 Explainable AI for Retinoblastoma Diagnosis: Interpreting Deep Learning Models with LIME and SHAP

  https://www.mdpi.com/2075-4418/13/11/1932

  Despite the recent advances in deep-learning-based medical image analysis, the lack of interpretability of these models hinders their application in clinical practice. […] This is especially important in the context of retinoblastoma. […] While deep learning models have achieved remarkable performance in detecting retinoblastoma, their black-box nature poses significant challenges in explaining the decision-making process. […] There is a clear gap in the literature when it comes to the application of explainable AI techniques in retinoblastoma detection. […] Our proposed approach provides insights into the decision-making process of the model and enables clinicians to better understand and trust the model’s predictions. […] Our work contributes to the growing body of literature on the application of explainable AI in medical image analysis, specifically in the context of retinoblastoma detection.

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