What is retinoblastoma?
Retinoblastoma is the most common malignant eye tumor in children, accounting for approximately 3% of pediatric tumors. It affects one or both eyes in the first years of life. It originates in the cells of the retina.
In developed countries, including Portugal, the overall survival rate is 95%.
In recent years, there has been great progress in its treatment, with improved preservation of the eyeball and vision, to which early diagnosis also contributes.
Clinical presentation
There are several signs and symptoms present in the diagnosis of retinoblastoma.
These children are usually in good general health and do not appear to be ill.
Should be investigated given the following signs/symptoms:
- Leukocoria – a white pupillary reflex, noticeable in low-light environments or in a photograph;
- Strabismus – testing the red reflex is necessary in these children;
- Absence of the red reflex in one or both eyes;
- Parents’ concern about the possible presence of leukocoria.
Epidemiology
- 1:20.000 newborns
- Portugal: 5-10 cases/ year
- Unilateral ou bilateral
- Average age at diagnosis: 12 months for unilateral cases and 24 months for bilateral cases
- There is no predominance in gender or race
Testing the red reflex determines if urgent referral is necessary. Early diagnosis increases the possibility of preserving vision and reducing the long-term impact of the disease.
Why is raising awareness about retinoblastoma among healthcare professionals important?
Although it is a cancer with a high survival rate, most of these children live with the consequences of a late diagnosis, with the loss of one or both eyes and consequent use of an ocular prosthesis, decreased vision, or even total blindness. About 60-70% of cases with Retinoblastoma diagnosed late require enucleation (complete removal of the eyeball).
It is vital that doctors, particularly Pediatricians and General Practitioners, know the warning signs, such as checking the Red Reflex, so that they can refer urgently whenever necessary.
More than 80% of patients are diagnosed late, and all of them after suspicion raised by parents or other family members.
Don't forget
- Check for the red reflex at all Child Health appointments and in all cases of family concern;
- In retinoblastoma, leukocoria and strabismus may be the only signs in apparently healthy children;
- All suspected cases and/or cases with a family history of retinoblastoma should be urgently referred for observation by an ophthalmologist;
- Adults who have had retinoblastoma should be followed up in a Genetics consultation for genetic testing and counseling;
- Children with a positive genetic test but without retinoblastoma should be monitored with an ophthalmologist from birth;
- Just because it’s rare doesn’t mean it’s not there!
Medical screening
Retinoblastoma is hereditary in about 40% of cases, and every child carrying the Rb gene has about a 90% risk of developing the disease. In these cases, screening should be performed from birth at the National Reference Center for Onco-Ophthalmology.
Observation in Genetic consultation of familial Retinoblastoma cases is mandatory for conducting genetic studies and counseling. Preimplantation and prenatal genetic testing (chorionic villus sampling and amniocentesis) is possible in cases of couples where one partner carries the Rb gene.
For more information, please contact:: oftalmologia@chuc.min-saude.pt
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