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What is the significance of a positive family history in retinoblastoma cases?
What is the significance of a positive family history in retinoblastoma cases?
A positive family history is present in only 6% of cases, indicating that the majority, 94%, are sporadic.
List the clinical features that can indicate the presence of retinoblastoma.
List the clinical features that can indicate the presence of retinoblastoma.
The clinical features include leukocoria, strabismus, secondary glaucoma, and proptosis.
What imaging techniques are used in the diagnosis of retinoblastoma?
What imaging techniques are used in the diagnosis of retinoblastoma?
Diagnosis is based on ophthalmoscopy, X-ray for calcification, ultrasonography, CT scans, and MRI.
What are the treatment options for large tumors affecting one eye in retinoblastoma?
What are the treatment options for large tumors affecting one eye in retinoblastoma?
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Identify at least three differential diagnoses for leukocoria in infants besides retinoblastoma.
Identify at least three differential diagnoses for leukocoria in infants besides retinoblastoma.
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What type of intraocular tumor is most commonly found in adults?
What type of intraocular tumor is most commonly found in adults?
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Which primary intraocular tumor is most prevalent in children?
Which primary intraocular tumor is most prevalent in children?
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Identify the most common benign tumor found in the eye.
Identify the most common benign tumor found in the eye.
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What is the average age for patients diagnosed with choroidal melanoma?
What is the average age for patients diagnosed with choroidal melanoma?
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Describe the typical appearance of a choroidal melanoma.
Describe the typical appearance of a choroidal melanoma.
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What is the recommended management for small choroidal melanoma lesions?
What is the recommended management for small choroidal melanoma lesions?
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Which imaging techniques are used for assessing intraocular tumors?
Which imaging techniques are used for assessing intraocular tumors?
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When is enucleation indicated for ocular melanoma?
When is enucleation indicated for ocular melanoma?
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What percentage of retinoblastoma cases have a positive family history?
What percentage of retinoblastoma cases have a positive family history?
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What is the most common clinical presentation of retinoblastoma?
What is the most common clinical presentation of retinoblastoma?
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At what age is retinoblastoma almost always diagnosed?
At what age is retinoblastoma almost always diagnosed?
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What is the treatment of choice for large tumors affecting one eye in retinoblastoma?
What is the treatment of choice for large tumors affecting one eye in retinoblastoma?
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What imaging technique might provide evidence of tumor calcification in retinoblastoma?
What imaging technique might provide evidence of tumor calcification in retinoblastoma?
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What type of tumors are the most common in adults regarding intraocular tumors?
What type of tumors are the most common in adults regarding intraocular tumors?
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What is the most common primary intraocular tumor in children?
What is the most common primary intraocular tumor in children?
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Which benign tumor is most commonly found in the eye?
Which benign tumor is most commonly found in the eye?
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What typifies the appearance of ocular melanoma in adults?
What typifies the appearance of ocular melanoma in adults?
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When is observation recommended in the management of choroidal melanoma?
When is observation recommended in the management of choroidal melanoma?
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What is indicated for large choroidal melanomas?
What is indicated for large choroidal melanomas?
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What significant feature distinguishes intraocular metastases from primary intraocular tumors?
What significant feature distinguishes intraocular metastases from primary intraocular tumors?
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What imaging techniques are essential for assessing intraocular tumors?
What imaging techniques are essential for assessing intraocular tumors?
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Study Notes
Intraocular Tumours
- Intraocular tumours are abnormal cell growths within the eye.
- They can be benign or malignant.
- Metastatic intraocular tumours are more common in adults, originating from areas like the lung, breast, or prostate.
- Retinoblastoma is the most common primary intraocular tumour in children.
- Malignant melanoma of the uvea is the most common primary intraocular tumour in adults.
- Intraocular metastases are ten times more common than primary intraocular tumours.
- Choroidal nevus is the most common benign tumour in the eye.
- Iris melanomas are generally considered low-grade tumours with a low metastatic risk.
Diagnostic Tools
- Ophthalmic ultrasonography, CT, MRI, and optical coherence tomography (OCT) are used to assess tumour dimensions, location, configuration, and extraocular extension.
Malignant Melanoma of the Choroid
- The average age of patients with choroidal melanoma is 50 years.
- The tumour appears as a unilateral, elevated, brown oval mass.
- It may be mottled with dark brown or black pigments.
- Management options include observation for small lesions, local resection for small peripheral lesions, radioactive plaques for small or medium-sized tumours, enucleation for large melanomas, external beam irradiation before enucleation, and transpupillary thermotherapy (TTT).
Retinoblastoma
- The most common primary intraocular malignancy in childhood.
- Occurs in approximately 1 in 20,000 live births.
- Usually presents before the age of 3 years.
- Family history is present in only 6% of cases, while sporadic cases account for the remaining 94%.
- The tumour may be bilateral in 20% of cases.
- Clinical presentation: leukocoria (65% of cases), strabismus, secondary glaucoma, proptosis, accidental finding on routine examination.
Retinoblastoma Diagnosis & Treatment
- Diagnosis is based on ophthalmoscopy, x-ray for calcification, ultrasonography, and CT scans/MRI.
- Treatment prioritises saving the child's life, globe, and vision, and includes photocoagulation, trans-scleral cryotherapy, diode laser, radiotherapy, trans-pupillary thermotherapy, systemic chemotherapy, and enucleation.
Leukocoria Differential Diagnosis
- Congenital cataract
- Retinoblastoma
- Retinopathy of prematurity
- Persistent hyperplastic primary vitreous
- Coats disease
- Retinal dysplasia
Intraocular Tumors
- Intraocular tumors are abnormal cell growths within the eye.
- They can be benign (non-cancerous) or malignant (cancerous).
- Most common type in adults is metastatic, meaning they spread from other parts of the body, such as the lungs, breast, or prostate.
- Retinoblastoma is the most common primary intraocular tumor in children.
- Malignant melanoma of the uvea is the most common primary intraocular tumor in adults.
- Intraocular metastases are ten times more common than primary intraocular tumors.
- The most common benign tumor is a choroidal nevus.
- Choroidal hemangiomas are vascular tumors, and can cause vision loss if located in the macula lutea, the central part of the retina responsible for detailed vision.
- Iris melanomas are generally low-grade tumors with a low metastatic risk.
Diagnosis and Treatment
- Ophthalmic ultrasonography, CT, MRI, and optical coherence tomography (OCT) provide information on tumor size, location, and extraocular extension.
- Malignant melanoma of the choroid is the most common primary intraocular tumor in adults.
- The average age of patients with choroidal melanoma is 50 years.
- Observation is considered for small lesions, single eye with slow-growing tumors, and differentiation from a nevus.
- Local resection can be used for small peripheral lesions.
- Radioactive plaques can be used for small or medium-sized tumors near the posterior pole.
- Enucleation is the removal of the eye and is indicated for large melanomas.
- External beam irradiation prior to enucleation can reduce the risk of melanositic lesions.
- Transpupillary thermotherapy (TTT) is a treatment option.
Retinoblastoma
- Retinoblastoma is the most common primary intraocular malignancy in childhood.
- Occurs in about 1 in 20,000 live births.
- Usually presents before age 3.
- Positive family history is present in only 6% of cases, with sporadic cases accounting for the remaining 94%.
- Can be bilateral (both eyes) in 20% of cases.
Clinical Features of Retinoblastoma
- Leukocoria (white reflex in the pupil) is seen in 65% of cases.
- Strabismus (crossed eyes) is another symptom.
- Secondary glaucoma can occur.
- Proptosis (bulging eye) may also occur.
- Diagnosis can be accidental during a routine eye examination.
Retinoblastoma Diagnosis and Treatment
- Ophthalmoscopy with pupillary dilation is used for diagnosis.
- X-rays may show tumor calcification.
- Ultrasonography, CT scans, and MRI are also used for diagnosis.
Treatment Options for Retinoblastoma
- Photocoagulation is used for small central tumors.
- Trans scleral cryotherapy or diode laser is used for small peripheral tumors.
- Radiotherapy or Trans-pupillary thermotherapy is used for medium tumors.
- Systemic chemotherapy is another option.
- Enucleation with excision of the optic nerve is the treatment of choice for large tumors in one eye.
Differential Diagnosis of Leukocoria in Infants
- Congenital cataract
- Retinoblastoma
- Retinopathy of prematurity
- Persistent hyperplastic primary vitreous
- Coats disease
- Retinal dysplasia
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Description
This quiz covers the types of intraocular tumours, their characteristics, and the diagnostic tools used in their assessment. Learn about benign and malignant tumours, specifically retinoblastoma and melanoma, as well as crucial imaging techniques like MRI and OCT.
