Retinoblastoma is a rapidly developing cancer of the retina that mostly affects young children. It can be hereditary, arising from a genetic mutation, or non-hereditary. Clinical features include a white pupil reflex or leukocoria. Diagnosis involves eye examination and imaging tests. Treatment depends on tumor stage but may include chemotherapy, radiation therapy, cryotherapy, or eye removal. Close monitoring of family members is needed if hereditary to screen for the condition.
Retinoblastoma is a rare cancer that affects the retina. It is the most common eye cancer in children and its incidence ranges from 1 in 14,000 to 1 in 34,000 live births worldwide. The document discusses the epidemiology, genetics, pathology, clinical presentation, diagnostic evaluation, classification systems, management options including chemotherapy, radiation therapy, cryotherapy and enucleation, and importance of genetic counseling for families with retinoblastoma.
Retinoblastoma is a rare cancer that affects the retina in children. It is caused by mutations in the RB1 gene that regulates cell growth. The disease can be hereditary or sporadic. Presenting symptoms include leukocoria, strabismus, and vision loss. Diagnosis is usually made through eye examination and imaging tests like ultrasound and MRI. Treatment depends on disease stage and extent, and may include enucleation, chemotherapy, radiation therapy, cryotherapy, or brachytherapy to preserve vision and the eye. Retinoblastoma can spread from the eye to other parts of the body if not treated properly. Early detection and treatment are important for good outcomes.
This document provides information on retinoblastoma, including its history, epidemiology, genetics, clinical manifestations, diagnosis, staging, prognosis, and management. Some key points:
- Retinoblastoma is a malignant tumor of the retina that typically presents in childhood. It can be hereditary or sporadic.
- Presenting signs may include leukocoria, strabismus, reduced vision. Advanced cases can involve the optic nerve or orbit.
- Diagnosis involves examinations like ultrasonography, MRI, and indirect ophthalmoscopy. Genetic testing helps determine hereditary risk.
- Staging considers tumor size, location, laterality and extent. Prognostic factors include age and
- Retinoblastoma is a rare cancer that affects the retina in young children. It arises from primitive retinal cells.
- The patient was a 19 month old boy referred for a white pupil in the right eye noticed for 4 months. Examination found a white pupil and squint in the right eye.
- Investigations including ultrasound and MRI confirmed the diagnosis of retinoblastoma in the right eye. The family then took the child to another hospital for further chemotherapy and management.
This document provides information on the clinical evaluation, imaging, classification, staging, management, and molecular therapy approaches for retinoblastoma. It discusses various treatment options including chemotherapy, surgery, radiation therapy, and newer targeted molecular therapies. Current treatment protocols are outlined based on the classification and staging of the retinoblastoma.
Retinoblastoma is a cancer of the retina. The eye has three layers - an outer fibrous layer, inner sensory retina, and middle vascular layer. Retinoblastoma appears as opaque, yellow-white tumors in the retina seen on fundus examination. Diagnosis is confirmed through imaging like CT/MRI showing enhancement and retinal detachment. Treatment involves radiation therapy using plaques or external beam, with doses of 40-45Gy over 5 days to treat the whole retina while sparing other tissues. Follow up is needed every 4-6 weeks initially and yearly long term to monitor for recurrence.
This document discusses retinoblastoma, a rare form of eye cancer that affects children. It is caused by mutations in the RB1 gene and can be hereditary or non-hereditary. Symptoms include white pupil reflex and strabismus. Diagnosis involves examinations like indirect ophthalmoscopy and imaging like ultrasound, CT, and MRI. Treatment depends on tumor staging and may include focal therapies like thermotherapy, chemotherapy, radiation, or enucleation. Prognosis is generally good if caught early but risks include secondary cancers and recurrence so lifelong follow-up is important. Genetic counseling is also critical given hereditary risks for family members.
Retinoblastoma is a rare cancer that affects the retina. It is the most common eye cancer in children and its incidence ranges from 1 in 14,000 to 1 in 34,000 live births worldwide. The document discusses the epidemiology, genetics, pathology, clinical presentation, diagnostic evaluation, classification systems, management options including chemotherapy, radiation therapy, cryotherapy and enucleation, and importance of genetic counseling for families with retinoblastoma.
Retinoblastoma is a rare cancer that affects the retina in children. It is caused by mutations in the RB1 gene that regulates cell growth. The disease can be hereditary or sporadic. Presenting symptoms include leukocoria, strabismus, and vision loss. Diagnosis is usually made through eye examination and imaging tests like ultrasound and MRI. Treatment depends on disease stage and extent, and may include enucleation, chemotherapy, radiation therapy, cryotherapy, or brachytherapy to preserve vision and the eye. Retinoblastoma can spread from the eye to other parts of the body if not treated properly. Early detection and treatment are important for good outcomes.
This document provides information on retinoblastoma, including its history, epidemiology, genetics, clinical manifestations, diagnosis, staging, prognosis, and management. Some key points:
- Retinoblastoma is a malignant tumor of the retina that typically presents in childhood. It can be hereditary or sporadic.
- Presenting signs may include leukocoria, strabismus, reduced vision. Advanced cases can involve the optic nerve or orbit.
- Diagnosis involves examinations like ultrasonography, MRI, and indirect ophthalmoscopy. Genetic testing helps determine hereditary risk.
- Staging considers tumor size, location, laterality and extent. Prognostic factors include age and
- Retinoblastoma is a rare cancer that affects the retina in young children. It arises from primitive retinal cells.
- The patient was a 19 month old boy referred for a white pupil in the right eye noticed for 4 months. Examination found a white pupil and squint in the right eye.
- Investigations including ultrasound and MRI confirmed the diagnosis of retinoblastoma in the right eye. The family then took the child to another hospital for further chemotherapy and management.
This document provides information on the clinical evaluation, imaging, classification, staging, management, and molecular therapy approaches for retinoblastoma. It discusses various treatment options including chemotherapy, surgery, radiation therapy, and newer targeted molecular therapies. Current treatment protocols are outlined based on the classification and staging of the retinoblastoma.
Retinoblastoma is a cancer of the retina. The eye has three layers - an outer fibrous layer, inner sensory retina, and middle vascular layer. Retinoblastoma appears as opaque, yellow-white tumors in the retina seen on fundus examination. Diagnosis is confirmed through imaging like CT/MRI showing enhancement and retinal detachment. Treatment involves radiation therapy using plaques or external beam, with doses of 40-45Gy over 5 days to treat the whole retina while sparing other tissues. Follow up is needed every 4-6 weeks initially and yearly long term to monitor for recurrence.
This document discusses retinoblastoma, a rare form of eye cancer that affects children. It is caused by mutations in the RB1 gene and can be hereditary or non-hereditary. Symptoms include white pupil reflex and strabismus. Diagnosis involves examinations like indirect ophthalmoscopy and imaging like ultrasound, CT, and MRI. Treatment depends on tumor staging and may include focal therapies like thermotherapy, chemotherapy, radiation, or enucleation. Prognosis is generally good if caught early but risks include secondary cancers and recurrence so lifelong follow-up is important. Genetic counseling is also critical given hereditary risks for family members.
Rhabdomyosarcoma is a malignant mesenchymal tumor with features of skeletal muscle. It is the most common childhood and adolescent soft tissue sarcoma, frequently involving the head and neck in children.
Diabetic retinopathy is a diabetic microangiopathy that affects the retinal vasculature and its complications. It is divided into non-proliferative diabetic retinopathy, pre-proliferative retinopathy, and proliferative diabetic retinopathy. Macular edema, which can be focal, diffuse, or cystoid, is a common complication and is treated with injections of steroids or anti-VEGF drugs. Proliferative retinopathy is characterized by the growth of new abnormal blood vessels on the retina or into the vitreous cavity, which can lead to vitreous hemorrhage or tractional retinal detachment. Treatment involves laser photocoagulation, anti-VEGF
Orbital tumors can be primary, secondary, or metastatic in origin. The most common malignant orbital tumor in adults is lymphoma, which typically involves the lacrimal gland. Malignant melanoma of the uvea is also relatively common and can arise in the iris, ciliary body, or choroid. Treatment options depend on the type and size of the tumor but may include surgery, radiation therapy such as plaque brachytherapy, proton beam therapy, or stereotactic radiotherapy. Complications can include vision loss, glaucoma, and cataracts.
idiopathic orbital inflammatory syndromeNeurologyKota
Dr. Nishtha Jain provides a detailed overview of orbital inflammatory disease (OID), also known as orbital pseudotumor. OID is a heterogeneous group of disorders characterized by orbital inflammation of unknown cause. It can affect any orbital structure and presentations range from abrupt to insidious onset. Diagnosis involves ruling out other causes via imaging such as CT and MRI. Treatment primarily involves systemic corticosteroids, with radiation or other immunosuppressants used for refractory cases. OID remains a diagnostic challenge due to its varied presentations and similarities to other orbital conditions.
Retinitis pigmentosa is a genetic disorder that causes the rods and cones in the retina to deteriorate over time. This leads to progressive vision loss starting with night blindness and loss of peripheral vision, which can eventually cause total blindness. There is no cure, but vitamin A supplementation and an omega-3 rich diet have been shown to potentially slow the progression of the disease. It is diagnosed through visual field tests and ERG testing, and patients are referred to low vision specialists who can prescribe aids to help maximize remaining vision.
Leukemia is cancer of the white blood cells. Acute myeloid leukemia (AML) is a type of leukemia characterized by abnormal proliferation of myeloid precursors in the bone marrow, blood, and other tissues. This leads to reduced production of normal blood cells. AML is diagnosed based on examination of bone marrow aspirate and biopsy, which show over 20% myeloblasts. Specific subtypes are classified based on cell morphology and staining characteristics. Treatment of AML aims to induce remission by eliminating leukemia cells.
This document discusses the anatomy and physiology of the pupil and its innervation. It covers topics like:
- The muscles that control the pupil (sphincter pupillae and dilator pupillae) and their innervation.
- Causes of anisocoria (unequal pupil size) like drugs, trauma, and neurological conditions.
- Horner's syndrome which causes ptosis, miosis, and anhidrosis due to interruption of the sympathetic pathway.
- Adie's tonic pupil which shows a paradoxical constriction to light and dilation with accommodation due to damage to the parasympathetic pathway.
- Third nerve palsy which can cause ptosis, diplo
Retinoblastoma is a rapidly-growing childhood eye cancer that affects the retina. It can be genetic or non-genetic. Symptoms include an unusual white pupil reflection and eye deformation. It is detected via eye exam and confirmed through retinal scans or other tests. Treatment involves chemotherapy, radiation, cryotherapy or laser treatments, and sometimes surgical eye removal. Most patients are cured and retain vision, though a few may lose an eye or vision.
The document discusses various types of orbital tumours and pathologies. It describes three main intraorbital spaces - intraconal, conal and extraconal - and examples of pathologies that can occur in each space. It provides details on orbital lymphoma, rhabdomyosarcoma, orbital metastasis and dermoid cysts. For each condition, it outlines clinical features, location in the orbit, radiological features on CT and MRI such as signal characteristics, enhancement patterns and appearance. Common primary cancers that metastasize to the orbit are also listed.
This document provides an overview of diabetic macular edema (DME) and its treatment. It discusses the results of major clinical trials that established standards of care. The Early Treatment Diabetic Retinopathy Study (ETDRS) first demonstrated that focal laser photocoagulation can reduce vision loss from DME. However, many patients still lose vision with laser alone. Recent studies show anti-VEGF agents like ranibizumab are now the standard treatment, providing better outcomes than laser. Clinical trials found ranibizumab improves vision in DME and fewer injections are needed over time using PRN regimens. While laser remains an option, anti-VEGF agents lead to greater vision gains and have replaced laser
presentation on intraolcular tumors including detailed explaination on their pathology diagnosis and treatment including details of retinoblastoma. enucleation
Retinoblastoma is a rare eye cancer that affects children. It is caused by mutations in the RB1 tumor suppressor gene. There are two main types - sporadic which occurs spontaneously, and hereditary which is inherited. Treatment depends on tumor size and extent, and may include chemotherapy, laser therapy, cryotherapy, plaque brachytherapy, or enucleation of the eye for large tumors. The goal is to save vision if possible or life if the eye cannot be saved. Screening of family members is important given the hereditary risk.
Retinoblastoma (RB) is a rare form of cancer, that rapidly develops from the immature cells of a retina ( the light-detecting tissue of the eye). It is the most common primary malignant intraocular cancer in children.
Cancer of the Eye
Diagnosis: Birth-~6 years olds
Unilateral or Bilateral
~3% of Pediatric Cancers
- The document discusses the evaluation of proptosis, which is the abnormal forward protrusion of the eyeball. It defines different types of orbital abnormalities and provides the approach to examining a patient with proptosis, including taking a thorough history, performing a local and systemic examination, ordering appropriate imaging and lab tests, and considering histopathological studies if needed. The causes of proptosis can be divided into categories such as inflammatory, mass effect, vascular changes, and infiltrative processes. Key aspects of the evaluation are to determine if the proptosis is unilateral or bilateral and whether there are associated signs and symptoms to suggest an underlying cause.
1) A 2-year-old male child presented with a white spot in his left eye and gradual protrusion of the eye. Differential diagnoses included retinoblastoma, persistent hyperplastic primary vitreous, and Coats disease.
2) Imaging showed calcification in the eye, suggesting retinoblastoma. Retinoblastoma is a rare malignant tumor of the retina that can be heritable or non-heritable. Treatment may include laser therapy, cryotherapy, chemotherapy, or enucleation of the eye depending on the size and stage of the tumor.
3) The diagnosis in this case was retinoblastoma based on the presentation of a white spot in the eye, protr
The document defines phakomatoses as multisystem disorders involving the central nervous system, eyes, and skin that cause characteristic lesions and hamartomas. It then describes several common and uncommon phakomatoses syndromes in detail, focusing on their defining clinical features, inheritance patterns, prevalence, and ocular manifestations. The most prominent syndromes discussed are neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, Sturge-Weber syndrome, and Wyburn-Mason syndrome.
This document discusses various ocular and orbital tumours. It begins by providing an overview of orbital anatomy and the effects of space-occupying lesions. It then discusses the most common paediatric and adult orbital tumours. Specific tumour types are examined in more detail, including retinoblastoma, rhabdomyosarcoma, lacrimal gland tumours, squamous cell carcinoma, and orbital metastases. For each tumour, the document outlines epidemiology, clinical presentation, investigations, differential diagnosis, and treatment approaches.
This document discusses different types of cataracts, including congenital and acquired cataracts. It describes various causes of congenital cataracts including genetic mutations, metabolic disorders, infections, and chromosomal abnormalities. Congenital cataracts affect approximately 0.03% of newborns and are a leading cause of childhood blindness. The document also discusses different types of cataracts including nuclear, lamellar, and cerulean cataracts. It provides information on diagnosing and treating pediatric cataracts through surgery and preventing amblyopia.
Laser photocoagulation is used to destroy small tumors by burning them with a laser beam. It is used for very small tumors away from important eye structures like the macula and optic disc. Side effects can include retinal edema and detachment.
Retinoblastoma is a cancer of the retina that develops from mutations in the RB1 gene. It is the most common eye cancer in children. Treatment involves various modalities like chemotherapy, thermotherapy, cryotherapy, brachytherapy, or external beam radiotherapy to preserve vision and the eye if possible. Enucleation is recommended if over 50% of the eye is involved or there is suspicion of extraocular extension. Retinoblastoma management aims to preserve life first, then the eye, and vision.
Retinoblastoma for undergraduate MBBS Students.
Covers the basics of Aetiology, Genetics, pathophysiology, clinical features, Classification and management of Retinoblastoma.
Also encompasses salient points for PGMEE
Rhabdomyosarcoma is a malignant mesenchymal tumor with features of skeletal muscle. It is the most common childhood and adolescent soft tissue sarcoma, frequently involving the head and neck in children.
Diabetic retinopathy is a diabetic microangiopathy that affects the retinal vasculature and its complications. It is divided into non-proliferative diabetic retinopathy, pre-proliferative retinopathy, and proliferative diabetic retinopathy. Macular edema, which can be focal, diffuse, or cystoid, is a common complication and is treated with injections of steroids or anti-VEGF drugs. Proliferative retinopathy is characterized by the growth of new abnormal blood vessels on the retina or into the vitreous cavity, which can lead to vitreous hemorrhage or tractional retinal detachment. Treatment involves laser photocoagulation, anti-VEGF
Orbital tumors can be primary, secondary, or metastatic in origin. The most common malignant orbital tumor in adults is lymphoma, which typically involves the lacrimal gland. Malignant melanoma of the uvea is also relatively common and can arise in the iris, ciliary body, or choroid. Treatment options depend on the type and size of the tumor but may include surgery, radiation therapy such as plaque brachytherapy, proton beam therapy, or stereotactic radiotherapy. Complications can include vision loss, glaucoma, and cataracts.
idiopathic orbital inflammatory syndromeNeurologyKota
Dr. Nishtha Jain provides a detailed overview of orbital inflammatory disease (OID), also known as orbital pseudotumor. OID is a heterogeneous group of disorders characterized by orbital inflammation of unknown cause. It can affect any orbital structure and presentations range from abrupt to insidious onset. Diagnosis involves ruling out other causes via imaging such as CT and MRI. Treatment primarily involves systemic corticosteroids, with radiation or other immunosuppressants used for refractory cases. OID remains a diagnostic challenge due to its varied presentations and similarities to other orbital conditions.
Retinitis pigmentosa is a genetic disorder that causes the rods and cones in the retina to deteriorate over time. This leads to progressive vision loss starting with night blindness and loss of peripheral vision, which can eventually cause total blindness. There is no cure, but vitamin A supplementation and an omega-3 rich diet have been shown to potentially slow the progression of the disease. It is diagnosed through visual field tests and ERG testing, and patients are referred to low vision specialists who can prescribe aids to help maximize remaining vision.
Leukemia is cancer of the white blood cells. Acute myeloid leukemia (AML) is a type of leukemia characterized by abnormal proliferation of myeloid precursors in the bone marrow, blood, and other tissues. This leads to reduced production of normal blood cells. AML is diagnosed based on examination of bone marrow aspirate and biopsy, which show over 20% myeloblasts. Specific subtypes are classified based on cell morphology and staining characteristics. Treatment of AML aims to induce remission by eliminating leukemia cells.
This document discusses the anatomy and physiology of the pupil and its innervation. It covers topics like:
- The muscles that control the pupil (sphincter pupillae and dilator pupillae) and their innervation.
- Causes of anisocoria (unequal pupil size) like drugs, trauma, and neurological conditions.
- Horner's syndrome which causes ptosis, miosis, and anhidrosis due to interruption of the sympathetic pathway.
- Adie's tonic pupil which shows a paradoxical constriction to light and dilation with accommodation due to damage to the parasympathetic pathway.
- Third nerve palsy which can cause ptosis, diplo
Retinoblastoma is a rapidly-growing childhood eye cancer that affects the retina. It can be genetic or non-genetic. Symptoms include an unusual white pupil reflection and eye deformation. It is detected via eye exam and confirmed through retinal scans or other tests. Treatment involves chemotherapy, radiation, cryotherapy or laser treatments, and sometimes surgical eye removal. Most patients are cured and retain vision, though a few may lose an eye or vision.
The document discusses various types of orbital tumours and pathologies. It describes three main intraorbital spaces - intraconal, conal and extraconal - and examples of pathologies that can occur in each space. It provides details on orbital lymphoma, rhabdomyosarcoma, orbital metastasis and dermoid cysts. For each condition, it outlines clinical features, location in the orbit, radiological features on CT and MRI such as signal characteristics, enhancement patterns and appearance. Common primary cancers that metastasize to the orbit are also listed.
This document provides an overview of diabetic macular edema (DME) and its treatment. It discusses the results of major clinical trials that established standards of care. The Early Treatment Diabetic Retinopathy Study (ETDRS) first demonstrated that focal laser photocoagulation can reduce vision loss from DME. However, many patients still lose vision with laser alone. Recent studies show anti-VEGF agents like ranibizumab are now the standard treatment, providing better outcomes than laser. Clinical trials found ranibizumab improves vision in DME and fewer injections are needed over time using PRN regimens. While laser remains an option, anti-VEGF agents lead to greater vision gains and have replaced laser
presentation on intraolcular tumors including detailed explaination on their pathology diagnosis and treatment including details of retinoblastoma. enucleation
Retinoblastoma is a rare eye cancer that affects children. It is caused by mutations in the RB1 tumor suppressor gene. There are two main types - sporadic which occurs spontaneously, and hereditary which is inherited. Treatment depends on tumor size and extent, and may include chemotherapy, laser therapy, cryotherapy, plaque brachytherapy, or enucleation of the eye for large tumors. The goal is to save vision if possible or life if the eye cannot be saved. Screening of family members is important given the hereditary risk.
Retinoblastoma (RB) is a rare form of cancer, that rapidly develops from the immature cells of a retina ( the light-detecting tissue of the eye). It is the most common primary malignant intraocular cancer in children.
Cancer of the Eye
Diagnosis: Birth-~6 years olds
Unilateral or Bilateral
~3% of Pediatric Cancers
- The document discusses the evaluation of proptosis, which is the abnormal forward protrusion of the eyeball. It defines different types of orbital abnormalities and provides the approach to examining a patient with proptosis, including taking a thorough history, performing a local and systemic examination, ordering appropriate imaging and lab tests, and considering histopathological studies if needed. The causes of proptosis can be divided into categories such as inflammatory, mass effect, vascular changes, and infiltrative processes. Key aspects of the evaluation are to determine if the proptosis is unilateral or bilateral and whether there are associated signs and symptoms to suggest an underlying cause.
1) A 2-year-old male child presented with a white spot in his left eye and gradual protrusion of the eye. Differential diagnoses included retinoblastoma, persistent hyperplastic primary vitreous, and Coats disease.
2) Imaging showed calcification in the eye, suggesting retinoblastoma. Retinoblastoma is a rare malignant tumor of the retina that can be heritable or non-heritable. Treatment may include laser therapy, cryotherapy, chemotherapy, or enucleation of the eye depending on the size and stage of the tumor.
3) The diagnosis in this case was retinoblastoma based on the presentation of a white spot in the eye, protr
The document defines phakomatoses as multisystem disorders involving the central nervous system, eyes, and skin that cause characteristic lesions and hamartomas. It then describes several common and uncommon phakomatoses syndromes in detail, focusing on their defining clinical features, inheritance patterns, prevalence, and ocular manifestations. The most prominent syndromes discussed are neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, Sturge-Weber syndrome, and Wyburn-Mason syndrome.
This document discusses various ocular and orbital tumours. It begins by providing an overview of orbital anatomy and the effects of space-occupying lesions. It then discusses the most common paediatric and adult orbital tumours. Specific tumour types are examined in more detail, including retinoblastoma, rhabdomyosarcoma, lacrimal gland tumours, squamous cell carcinoma, and orbital metastases. For each tumour, the document outlines epidemiology, clinical presentation, investigations, differential diagnosis, and treatment approaches.
This document discusses different types of cataracts, including congenital and acquired cataracts. It describes various causes of congenital cataracts including genetic mutations, metabolic disorders, infections, and chromosomal abnormalities. Congenital cataracts affect approximately 0.03% of newborns and are a leading cause of childhood blindness. The document also discusses different types of cataracts including nuclear, lamellar, and cerulean cataracts. It provides information on diagnosing and treating pediatric cataracts through surgery and preventing amblyopia.
Laser photocoagulation is used to destroy small tumors by burning them with a laser beam. It is used for very small tumors away from important eye structures like the macula and optic disc. Side effects can include retinal edema and detachment.
Retinoblastoma is a cancer of the retina that develops from mutations in the RB1 gene. It is the most common eye cancer in children. Treatment involves various modalities like chemotherapy, thermotherapy, cryotherapy, brachytherapy, or external beam radiotherapy to preserve vision and the eye if possible. Enucleation is recommended if over 50% of the eye is involved or there is suspicion of extraocular extension. Retinoblastoma management aims to preserve life first, then the eye, and vision.
Retinoblastoma for undergraduate MBBS Students.
Covers the basics of Aetiology, Genetics, pathophysiology, clinical features, Classification and management of Retinoblastoma.
Also encompasses salient points for PGMEE
Dr. Sharmin Nahar and Dr. Olivia Akhter are presenting a seminar on pediatric hematology and oncology at BSMMU. They discuss the case of a 2-year-old girl admitted with headaches, vomiting, and seizures for the past month as well as left-sided weakness. Imaging shows a mass in the 4th ventricle causing hydrocephalus, possibly an ependymoma or medulloblastoma. They then provide an introduction to brain tumors in children, discussing types, incidence, risk factors, classification, and clinical features. Treatment options for brain tumors including surgery, radiation, and chemotherapy are also summarized.
The retina is the innermost layer of the eye that contains photoreceptor cells. Retinoblastoma is a malignant tumor that arises from these photoreceptor cells in the retina, most commonly affecting young children under 5 years old. It can be hereditary if caused by a mutation in the RB1 gene, resulting in bilateral and multifocal tumors, or non-hereditary if caused by somatic mutations, usually presenting as a unilateral tumor. Treatment depends on tumor size and extent but may include chemotherapy, local therapies like cryotherapy or brachytherapy, and enucleation of the eye for advanced cases. Early diagnosis and treatment can help preserve vision and life.
Retinoblastoma is a rare cancer that affects the retina. It is caused by mutations in the RB1 gene. There are two main types - hereditary retinoblastoma, which requires only one mutation, and sporadic retinoblastoma, which requires two mutations. Symptoms include leukocoria. Diagnosis involves ophthalmoscopy, imaging like ultrasound and MRI, and sometimes biopsy. Treatment depends on factors like tumor size and location, and may include focal therapies like cryotherapy, chemotherapy, external beam radiation, plaque brachytherapy, or enucleation of the eye. Prognosis depends on extent of disease and risk of metastasis.
I LOVE NEUROSURGERY INITIATIVE: INTRACRANIAL TUMORS.pptwalid maani
This document discusses intracranial tumors, including:
- Their incidence rates, with primary brain tumors occurring in 6 per 100,000 people and metastatic tumors in 30 per 100,000 people.
- Common tumor types like astrocytomas, oligodendrogliomas, ependymomas, medulloblastomas, meningiomas, and pituitary tumors.
- Risk factors, clinical presentation, investigations including CT, MRI, PET and angiography, pathology classification, and management approaches like surgery, radiation and chemotherapy.
The document discusses central nervous system (CNS) tumors. It notes that CNS tumors can be primary tumors originating in the brain or spinal cord, or metastatic tumors that have spread from other areas. Primary CNS tumors are more common in children, where 70% arise in the posterior fossa, while in adults most primary tumors arise supratentorially. CNS tumors are classified based on the type of tissue they originate from, with the main types being tumors of glial tissue (gliomas), neurons, and meninges. Gliomas include astrocytomas, oligodendrogliomas, and ependymomas, which are graded based on malignancy characteristics.
1. World Health Organization (WHO) grade 1 and 2 gliomas account for 60% of pediatric supratentorial tumors, with pilocytic astrocytomas being the most common, making up 1/3 of pediatric gliomas. Pilocytic astrocytomas have an excellent prognosis with 95% 10-year survival.
2. Diffuse astrocytomas are less common low-grade tumors in children. High-grade gliomas including anaplastic gliomas and glioblastomas are rare in children but have a poor prognosis, though survival is better than in adults.
3. Subependymal giant cell tumors are slow-growing tumors seen in children with tuberous s
Pediatric solid tumors are a diverse group of cancers that arise in children. They account for 60% of pediatric malignant neoplasms and can originate from mesoderm, endoderm or ectoderm tissues. The most common types are brain tumors, neuroblastoma, rhabdomyosarcoma, Wilms' tumor, and osteosarcoma. Presentation depends on tumor location and type but may include masses, compression symptoms, metastases, and paraneoplastic effects. Diagnosis involves imaging, biopsy and laboratory tests. Treatment involves surgery, chemotherapy and/or radiation depending on tumor characteristics and stage. Prognosis depends on specific tumor type and stage.
This document discusses neuroblastoma and nephroblastoma (Wilms tumor). Neuroblastoma is the most common extracranial solid tumor in children, arising from the sympathetic nervous system. It presents heterogeneously from spontaneous regression to aggressive forms. The causes are largely unknown. Nephroblastoma (Wilms tumor) is the most common malignant renal tumor of childhood. Both tumors are diagnosed through imaging and urine/blood tests. Prognosis and treatment varies depending on tumor histology and staging. Aggressive forms of neuroblastoma and anaplastic Wilms tumor remain difficult to treat.
Neuroblastoma is the most common extracranial solid tumor in children, arising from neural crest cells. It often presents with metastases at diagnosis. Treatment involves surgery, chemotherapy, radiation, stem cell transplant, and immunotherapy depending on risk factors like age, stage, genetics. Prognosis depends on stage, MYCN amplification, DNA ploidy, with stage 4 and amplified MYCN indicating poorer outcomes. Multimodal therapy has improved survival rates.
This document discusses various tumors of the central nervous system (CNS). It provides details on:
- The classification and incidence of different CNS tumors. Primary CNS tumors account for 20% of childhood cancers, with 70% occurring in the posterior fossa.
- The molecular genetics and morphology of common tumor types, including gliomas, astrocytomas, oligodendrogliomas, ependymomas, and medulloblastomas. Factors like location, growth patterns, and genetic mutations influence tumor behavior.
- The clinical features and prognosis of different tumor types. More malignant tumors are associated with worse outcomes, though treatments like surgery and radiation can improve survival for some tumors. Location within the
This document summarizes key information from a presentation on early diagnosis of cancer in neonates and young infants. It discusses how cancer can present non-specifically in infants, with symptoms like lethargy and feeding difficulties. Several common childhood cancers are mentioned, including neuroblastoma, Wilms tumor, retinoblastoma, and leukemia. Challenges in diagnosing and treating neonatal cancer are outlined, such as the need for specialized pathology expertise and reduced chemotherapy doses. The presentation concludes with acknowledgements and a call for improved early diagnosis and shared care models for childhood cancer.
- Neuroblastoma and Wilms tumor are the two most common childhood solid tumors that arise from neural crest cells and kidney respectively.
- Neuroblastoma has a peak incidence between ages 1-2 years and can occur anywhere along the sympathetic nervous system. Wilms tumor has a peak incidence below 5 years of age and presents as an abdominal mass.
- Both tumors are diagnosed through imaging such as CT/MRI and biopsy. Treatment involves surgery, chemotherapy and radiation depending on disease stage and risk factors. Prognosis is generally good, especially for early stage disease. Long term follow-up is important to monitor recurrence.
Neuroblastoma is a cancer of the sympathetic nervous system that most commonly affects infants and young children. It ranges in severity from tumors that spontaneously regress to very aggressive cases. Treatment involves surgery, chemotherapy, radiation, and stem cell transplants. Outcomes depend on risk factors like age and tumor stage, with low-risk cases having over 90% survival and high-risk cases having 25-35% long-term survival with intensive multimodal therapy. Stage 4S neuroblastoma in infants has an excellent prognosis often without treatment beyond symptom relief.
The document discusses several types of tumors that can occur in the head and neck region of children. Lymphoma, rhabdomyosarcoma, medullary carcinoma of the thyroid, and neuroblastoma are some of the tumors mentioned. For lymphoma, the most common presentation is cervical lymphadenopathy, while rhabdomyosarcoma often presents with pain and swelling in locations like the orbit or paranasal sinuses. Diagnosis involves biopsy along with imaging and lab tests. Treatment depends on the specific tumor but may involve chemotherapy, radiation, and surgery. All childhood cancer cases should be referred to a specialist center.
Primary brain tumors occur in around 250,000 people globally each year, accounting for less than 2% of all cancers. The most common primary brain tumors are meningiomas (20.8% of cases) and gliomas (50.4% of cases), which originate from glial cells. Gliomas include astrocytomas, oligodendrogliomas, and ependymomas. Astrocytomas are the most common glioma and are graded from I to IV based on factors like cellularity and presence of necrosis, with glioblastoma multiforme being grade IV. Meningiomas originate from the meninges and are typically benign, though some can become malignant. Primary brain tumors are
Retinoblastoma - Diagnosis and Management Presentationdocumesh
This document provides an overview of retinoblastoma, a rare eye cancer that affects children. It discusses the following key points:
- Retinoblastoma is the most common eye cancer in children. It is caused by mutations in the RB1 tumor suppressor gene.
- Presenting symptoms often include leukocoria (white pupil reflex) or strabismus. Diagnosis is usually made through ultrasound, MRI, CT scan, or histopathology.
- Treatment depends on factors like tumor stage and genetics. Options include focal therapies like cryotherapy or thermotherapy, external beam radiation, chemotherapy, and enucleation. The goal is usually tumor control while preserving vision and the eye.
Similar to retinoblastoma by dr george deogratias (20)
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
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retinoblastoma by dr george deogratias
1. RETINOBLASTOMA
Prepared by
George deogratias MD5 student.
Archbishop James university college the constitute of st.augustine
university of Tanzania.
(biziriko1991@gmail.com)
+255656592079
3. Introduction
• Retinoblastoma is a rapidly developing
cancer that develops from the immature
cells of a retina, the light-detecting tissue
of the eye and is the most common
malignant tumor of the eye in children .
4. Epidemiology
• Most common primary intraocular cancer of
childhood
• Third most common intraocular cancer
overall after melanoma and metastasis
• Incidence is 1/18,000-1/30,000 live births
• 90% of cases present before 3 years of age
5. • Occurs equally in males and females
• Occurs equally in right and left eyes
• No racial predilection
• 60% unilateral (mean age at diagnosis, 24
months)
• 40% bilateral (mean age at diagnosis, 12
months)
6. • A higher incidence is noted in developing
countries, this has been implicated to lower
socioeconomic status and the presence of
human papilloma virus sequences in the
retinoblastoma tissue.
• In the developed world, Rb has one of the
best cure rates of all childhood cancers (95-
98%), with more than nine out of every ten
sufferers surviving into adulthood.
8. hereditary/familial
• Accounts for 40% of all cases.
• All bilateral cases and about 15% of the
unilateral cases are hereditary.
• Most hereditary cases are multifocal.
9. • Inheritance is autosomal dominant and
the risk of transmitting the gene mutation
is 50%.
• Some hereditary cases have trilateral
retinoblastoma (i.e., have associated
pinealoblastoma).
10. • Accounts for 60% of all cases.
• All non-hereditary cases are unilateral and
unifocal and accounts for 85% of the all
unilateral cases of retinoblastoma.
• Patient is not predisposed to get second
nonocular cancer.
• Tumour is not transmissible.
Non herditary/non familial/Sporadic
11. Pathogenesis
• It arises as malignant proliferation of the
immature retinal neural cells called,
retinoblasts, which have lost their
antioncogenic genes RB1.
• Because these cells disappear within the
first few years of life, the tumour is seldom
seen after 3 years of age
• RB1 is a tumor suppressor gene
• Identified as 14 band on the long-arm of
chromosome 13 (13q 14)
12. • It normally regulates cell growth and
controls cell division.
• If there is gene mutation of RB1 –then
there will be no functional protein and no
effective regulation of cell division
• As a result, certain cells in the
retina(photoreceptors) can divide
uncontrollably to form cancerous tumors.
13. • In hereditary, first hit (mutation) occurs in
one of the parental germ cells before
fertilization.
• This means mutation will occur in all somatic
cells (predisposing to develop even non
ocular tumor).
• Second hit (mutation) occurs late in post
zygote phase and affects the second allele,
resulting in development of retinoblastoma.
14. • In nonhereditary cases both hits (mutations)
occur in the embryo after fertilization and in
the same retinal cell.
• Because all the retinal precursor cells contain
the initial mutation, these children develop
bilateral and multifocal tumors in hereditary
form.
15. • Heritable retinoblastoma patients also have a
predisposition to nonocular cancers, most
notably pineal or suprasellar primitive
neuroectodermal tumour (PNET; also known
as pinealoblastoma and trilateral
retinoblastoma), which occurs in about 3%..
16. • Second malignant neoplasms include
osteosarcoma, melanoma, and malignancies
of the brain and lung, each of these tumours
tending to occur in a particular age group.
• The risk of second malignancy is about 6% but
this increases five-fold if external beam
irradiation has been used to treat the original
tumour, the second tumour tending to arise
within the irradiated field.
17. "Two hit model"
• if a child inherits a gene predisposing it to
get Retinoblastoma, a second event must
take place to change the other gene,
causing Retinoblastoma to occur.
The nature of the 2nd event is unknown,
but research is trying to determine which
factors can precipitate the onset of this
disorder.
20. Moderately
differentiated
retinoblastoma
Homer - Wright
(Primitive ) rosettes are
formed by a rim of
nuclei with a center
filled by tangles of
cytoplasmic
fi lamentsThese rosettes
also occur in
neuroblastomas and
other tumors. Both
types may contain
mitotic fi gures.
Grade II
21. • Homer Wright
rosettes: note the
neurofibrillary
tangle (arrow) in
the center of
these structures.
23. • The fleurette (arrow)
demonstrates bulbous
cellular extension of
retinoblastoma cells
that represent
differentiation along
the lines of
photoreceptor inner
segments.
24. Clinical Stages
1. Quiescent stage.
2. Glaucomatous stage.
3. Stage of extraocular extension.
4. Stage of distant metastasis.
25. 1.Quiescent stage.
(6/12-1yr)
• Leukocoria or yellowish-white pupillary reflex
(amaurotic cat’s eye appearance)
• Squint, usually convergent.
• Nystagmus
• Defective vision. Very rarely, when the tumour
• arises late (3-5 years of age)
• Ophthalmoscopic features;
(exo/endophytic,mixed)
26. Endophytic
-polypoidal mass of
white or pearly pink in
colour.
-Fine blood vessels+/-
haemorrhage on
its surface.
-If calcification
occurs,typical ‘cottage
cheese’ appearance.
-May be multiple
growths projecting
into the vitreous
27. Exophytic
It grows outwards and
separates the retina
from the choroid.
On fundus examination
it gives appearance of
exudative retinal
detachment
31. 3.Stage of extraocular extension.
Tumour of the globe
can bursts through the
sclera, usually near the
limbus or near the optic
disc, followed by rapid
fungation and
involvement of
extraocular tissues
resulting in marked
proptosis
32. 4.Stage of distant metastasis.
• 1.Lymphatic spread first occurs in the
preauricular and neighbouring lymph nodes.
• 2. Direct extension by continuity to the optic
nerve and brain.
• 3. Metastasis by blood stream involves
cranial and other bones. Metastasis in other
organs, usually the liver, though is relatively
rare.
33.
34.
35.
36.
37. 1. Persistent hyperplastic
primary vitreous (PHPV):
A congenital developmental
anomaly of the eye resulting
from failure of the
embryological, primary
vitreous and hyaloid
vasculature to regress,
whereby the eye is shorter,
develops a cataract, and may
present with whitening of
the pupil.
38. 2. Toxocara canis :an
infectious disease of
the eye associated
with exposure to
infected puppies,
which causes a
retinal lesion
leading to retinal
detachment.
39. 3.Coats disease:
a typically unilateral disease
characterised by abnormal
development of blood
vessels behind the retina,
leading to blood vessel
abnormalities in the retina
and retinal detachment to
mimic retinoblastoma
40. 4. Retinopathy of
prematurity (ROP):
associated with low
birth weight infants
who receive
supplemental oxygen
in the period
immediately after
birth, it involves
damage to the retinal
tissue and may lead to
retinal detachment
42. 3.Lactic dehydrogenase (LDH) level is raised in
aqueous humour.
4. Fine-needle aspiration biopsy (Fl AB) should
be undertaken only with extreme caution and
only by an experienced ocular oncologist,
because of the risk of systemic dissemination
of tumor.
5.Gene analysis
43. Further testing may include imaging studies.
• CT and MRI,can help define the structural
abnormalities and reveal any calcium
depositions.
• Ultrasound can help define the height and
thickness of the tumor.
• Bone marrow examination or lumbar
puncture may also be done to determine
any metastases to bones or the brain.
46. Tumour destructive therapy.
When the tumour is;
• diagnosed at an early stage (I) i.e. when
tumour involves less than half of retina
• optic nerve is not involved,
It may be treated conservatively by any or more
of the following tumour destructive methods
depending upon;
• the size
• the location of the tumour:
47. • Chemoreduction followed by local therapy
(Cryotherapy, thermochemotherapy or
brachytherapy) is recommended for large
tumours (>12mm in diameter)
• Radiotherapy (external beam radiotherapy
i.e. EBRT or brachytherapy) combined with
chemotherapy is recommended for medium
size tumour <12 mm in diameter and <8mm in
thickness)
48. • Cryotherapy is indicated for a small tumour
(<4.5mm indiameter and <2.5 mm in
thickness) locatedanterior to equator.
• Laser photocoagulation is used for a small
tumour located posterior to equator <3 mm
from fovea.
• Thermotherapy with diode laser is used for a
small tumour located posterior to equator
away from macula.
49. A, Before trea tment. B, Same eye 6 months
later, after treatment with chemoreduction and
laser therapy
50. Enucleation.
• Excision of the eyeball.
Indications;
• Tumour involves more than half of the retina.
• Optic nerve is involved.
• Glaucoma is present and anterior chamber is
involved.
51. Postoperative
If optic nerve shows invasion, postoperative
treatment should include:
• Radiotherapy (5000 rads) should be applied to
the orbital apex.
• Chemotherapy, consisting of vincristine,
carboplatin, and etoposide which may be
combined with cyclosporin should be
supplemented.
52. Palliative therapy
When prognosis for life is dismal in spite of
aggressive treatment:orbital extension,
intracranial extension,distant metastasis.
It includes;
• Chemotherapy,
• Surgical debulking of the orbit
• External beam radiotherapy (EBRT)
• Orbital exentration
53. • If retinoblastoma has been treated
conservatively; EUA is necessary every 2 to 8
weeks until the age of 3 years, after which
time examination without anaesthesia is
performed every 6 months until the age of
about 5 years, then annually until the age of
about 10 years.
54. • Spontaneous regression is recognized
clinically after involutional changes
such as phthisis have occurred.
• The incidence of spontaneous
regression is unknown, as no child
with active retinoblastoma is observed
with the hope of spontaneous
involution.
55. • Mechanism-not understood but histological
appearance is diagnostic.
• The vitreous cavities of these phthisical eyes
are filled with islands of calcified cells
embedded in a mass of fibroconnective tissue.
• Close inspection of the peripheral portion of
these calcified islands reveals the ghosted
contours of fossilized tumor cells
accompanied by exuberant proliferation of
retinal pigment and ciliary epithelia.
56. Genetic Counselling
Child with retinoblastoma
Family genetic counseling
retinoblastoma genetic mutation can be inherited.
Note;If the child carries the mutated RB1 gene,
then other children in the family might have
inherited the same abnormal gene as well
assuming that they have the hereditary form of
the disease (even if there is no family history of
the disease) till proved otherwise.
57. What to remember;
The genetic counselor will:
• Review the child’s medical records and ask
questions about other relatives to estimate the
likelihood of an inherited gene affecting some
family members.
• Provide information and answer questions about
Rb, genetic testing, and schedule tests for other
children in your family (if needed) so that their
risk of developing retinoblastoma can be
determined.
58. If tests show your children are at risk of
developing retinoblastoma;
• Close follow up
• Early diagnosis
• Proper management
59. • Molecular genetic test is an important tool in
genetic counselling.
• Mutation analysis of RB1 gene is done in
white blood cell DNA and tumor cells.
• If molecular genetic testing is not available or
is uninformative, empiric risks based on
tumor presentation (i.e. unifocal or
multifocal, laterality) and family history can
be used.
60.
61. Parents of a proband
– Detectable cytogenetically chromosome 13
deletion or rearrangement do parental
cytogenetic studies to determine if either parent
carries a balanced chromosome translocation or
rearrangement
– Positive family history (i.e., the parent had
retinoblastoma or a close relative of one parent
had retinoblastoma). Conclusion: The parent has
an RB1 cancer-predisposing germline mutation.
62. Negative family history.
DO;
– Examination of apparently unaffected
parents by an ophthalmologist
knowledgeable about retinoblastoma,
retinoma, and retinoblastoma-associated
eye lesions.
–If such a lesion is detected, the parent has
an RB1 cancer-predisposing germline
mutation
63. • Presence of a germline RB1 cancer-
predisposing mutation. Recommendation:
Molecular genetic testing of a blood sample
of both parents.
• If a germline mutation is identified in either
parent, the parent is at risk of developing
non-ocular second primary tumors and is
at-risk to transmit the mutation to other
offspring.
64. • If a germline RB1 mutation is not identified
in either parent, two possibilities exist:
1)the index case has a de novo RB1 germline
mutation (90-94% chance)
2)one parent has mosaicism (which includes
the germline) for the RB1 cancer-
predisposing mutation (6-10% chance).
• Mosaicism for an RB1 cancer-predisposing
mutation THEN Molecular genetic testing
of the parents is not necessary.
65. Sibs of a proband
depends on the genetic status of the parents of the
index case.
• If a parent is determined to have a germline RB1
cancer-predisposing mutation -the risk to each
sib of the index case is 50%
• If neither parent has the cancer-predisposing RB1
mutation -germline mosaicism in one parent is
possible and the risk to each sib of having
retinoblastoma is 3-5%
66. • If index case has mosaicism for an RB1
cancer-predisposing mutation-it is assumed
that the mutation arose as a post-zygotic
event and that neither parent has an RB1
germline mutation.
• The risk to the sibs is not increased.
67. Offspring of a proband
– If the index case has sporadic bilateral RB, a germline
RB1 cancer-predisposing mutation has to be assumed
and the risk to each offspring is close to 50%.
– If the index case has had sporadic unilateral multifocal
RB, recurrence risk for offspring is lower. (Note: In rare
families with "familial-low penetrance retinoblastoma,"
the risk of tumor development is less than 40%).
– The low (~1%), but not negligible, risk to the offspring of
index cases with unifocal disease and a negative family
history reflects the possibility of a germline RB1
mutation with low penetrance or mutational mosaicism.