Retinoblastoma Flashcards
what is retinoblastoma
- Retinoblastoma is a type of eye cancer that affects young children
- It is sight threatening but can also be life threatening if not treated- unlike rd which isn’t life threatning
- A tumour develops in the retina
how does retinoblastoma develop
In the very early stages of eye development, the eyes have cells called retinoblasts that grow very fast. Later, these stop growing and develop into mature retinal cells
Very rarely, the immature retinoblasts grow out of control and develop into a retinoblastoma
If untreated – this continues to grow and can fill the eye ball and spread around the body- metastates
This can lead to sight loss but can also be life threatening
Note: most retinoblastomas are diagnosed early and treatment preserves vision
who gets retinoblastoma
- typically affects children under the age of 5
Can be unilateral or bilateral
Can be sporadic or due to known genetic abnormality
Bilateral cases more likely to be genetic (McEvoy and Dyer, 2015)
what is the incidence of retinoblastoma
Incidence worldwide is approx. 1:16,000 live births (Dimaris et al, 2015)
Countries with higher birth rates and populations have the most cases
In the U.K. we see approximately 50 new cases per year (chect.org.uk)
mainly prevalent in Asian populations and low income countries
how are patients with retinoblastoma taken care of
multi disciplinary team manages these patients
MDT consists of oncologists, paediatricians, ophthalmologists, specialist nurses, orthoptists, clinical psychologists, play specialists, imagers etc…
MDT provides a unique care package specialised for each family and child
- Importance of orthoptist - Pre & post support for families and children, orthoptic examination, fundus imaging, OCT
what are the most common clinical features of retinoblastoma
Leukocoria - approx. 75%
Strabismus - approx. 25%
(Akhiwu et al, 2009 and Singh et al, 2007)
what are the less common clinical features of retinoblastoma
Sore, red or swollen eye
Change in iris colour
Deterioration of eye sight
No red reflex seen
Nystagmus
Note: Remember there are a lot of differential diagnoses a child may have so a full assessment is important prior to diagnosis
a whitish tinge in the pupil is referred to as…
Whitish tinge in pupil=leukoria
how is retinoblastoma diagnosed
Ophthalmoscopy +/- fundus imaging
Ultrasound of the eye
MRI/CT scans
Optical Coherence Tomography
Genetic tests – blood tests or saliva
how is opthalmoscopy used to diagnose retinoblastoma
=Dilated ophthalmoscopy is vital to ensure as much of retina is viewed as possible (in clinic or EUA)
IOP assessment is often warranted
Anterior segment assessment to check for iris neovascularisation
what is fundus imaging used for
Fundus imaging has become an important addition to ophthalmoscopy in the last 30 years
Fundus imaging has become an important part of the diagnostic testing
Retcam is a mainstay in Rb theatres and all patients are imaged to track course of disease and allow objective assessment from visit to visit
what are ct and MRI scans used for
Used more readily where extra-ocular or intra-cranial tumour extension is suspected
what are OCTS used for
Imaging technique that allows 3D imaging of retinal architecture (Sheth et al, 2013)
how is genetic testing used in the management of retinoblastoma
About 40% children diagnosed have a genetic mutation which often affects both eyes
The remaining 60% don’t have a known genetic mutation (these nearly always affect only one eye)
Important to obtain input from genetic counsellors- for concerns about effects on future children
There is a screening pathway for families with known RB
how is retinoblastoma managed
Management of Rb will depend on several factors such as their disease classification/stage and risk group
Treatment for retinoblastoma might include one or more of the following:
freezing therapy (cryotherapy) laser therapy chemotherapy radiotherapy surgery
