Retinoblastoma is a cancer of the eye in children. It originates from the retina, the light sensitive layer, in eye. It is the commonest tumor of the eye in childhood. . This tumor may involve one (75% of cases) or both (25% of cases) eyes in a child. Untreated, retinoblastoma is almost always fatal; hence the importance of early diagnosis and treatment
Yes in some cases it may be hereditary. Majority of cases (90%) have no family history of such disease; while a small percentage (10%) of newly diagnosed cases have other family members with retinoblastoma. Of all the cases of retinoblastoma, in 60% of cases it does not get transmitted to the next generation, while in 40% of cases it may get transmitted to the next generation. Therefore it is important to have a genetic counseling before having a baby to determine the risk of another child getting the same disease. Also, the siblings and children of the patients with retinoblastoma should be examined periodically in their childhood to detect any possible tumor early.
As the child does not complain of any poor vision, the tumor may remain undetected. The most common way of presentation is a white reflex (leukocoria) behind the pupil. This is sometimes called the ‘cat's eye reflex’. There are other causes of this white reflex as well, but an evaluation by an ophthalmologist is a must in all these children to rule out the possibility of this serious and potentially life threatening disease. It may also present as squint, painful red eye, inflammation of the tissue surrounding eye, protrusion of the eye ball (proptosis) etc. Occasionally it is detected on a routine eye checkup by an ophthalmologist, especially in a child with family history of this disease.
The most common time of detection of this tumor is around one year of age, when both eyes are involved; and around two years of age when only one eye is involved. A periodic evaluation of the child by an ophthalmologist, especially if there is a family history of this disease may help in picking up the tumor early. Whenever the child is suspected to have poor vision or if there are any of the above symptoms noted, an ophthalmologist must be consulted. To establish the diagnosis, the doctor may need to examine the child under general anesthesia. A few special tests like ultrasonography, CT scan, X-rays, MRI, blood tests, spinal tap, bone marrow biopsy etc. may be done to establish the diagnosis and to find out the extent of the disease.
Yes. 25% of these tumors can affect both the eyes. The other eye must also be evaluated thoroughly for the presence of any tumor. Also in a few cases, the other eye may develop tumor a bit later. Therefore on the follow up visits also, the other eye should be examined.
Some of these children, especially those in which the tumor involves both the eyes, are at a risk for developing other tumors like osteogenic sarcoma (a cancerous tumor that affects the bone). The radiation therapy for the tumor (external beam radiotherapy) increases this risk of other tumors.
As we know, a few of these cases may be hereditary; therefore all the siblings of the affected child must get an evaluation to rule out this disease.
These chances may range from as low as 1 in 15,000 to as high as 45%, and depend upon many factors, like whether there is a family history of such tumor, whether the tumor is involving both eyes etc. A genetic counseling should be sought when planning for another baby. Similarly, when a person with treated retinoblastoma plans to have a child, he or she must also consult the doctor for genetic counseling.
Yes. If detected at an early stage, the life and many times the sight and the eye of the child may be saved. After removal of the tumor, the chances of survival are very good in these children.
The aim of treatment in retinoblastoma, in order of priority, is to save the life, eye, sight and cosmesis of the child.
The treatment of retinoblastoma is individualized for each patient. The treatment modality for a given child is decided based on many important factors. These are:
As this is a difficult decision made based on many factors, it is advised to discuss with the treating ophthalmologist about the best treatment option for the concerned child. All the advantages and disadvantages of each option must be weighed before taking a decision. It is also important to discuss the rehabilitation and the cosmetic correction after the surgery.
In these cases, generally the worse eye is enucleated and the other eye is tried to salvage by using other methods of treatment. However, unfortunately in a few cases, both eyes may have to be removed.
As mentioned earlier, the safer and less destructive procedures may be taken when the tumor is in its early stage. By detecting and treating the tumor early, we may save the life, sight and eye of the child.
Even though retinoblastoma is a life threatening disease, it is rarely a fatal one if treated appropriately. With the correct treatment in the hands of an experienced ophthalmologist, the retinoblastoma patient has a very good chance of living a long, full, and happy life.
It is very important to have a proper follow up with the treating ophthalmologist for the eye tumor as well as for detection and treatment of possible other tumors. The frequency of follow up depends upon the type of tumor and the type of treatment given. Also in children with only one eye left, extra care must be taken to avoid injuries to the good eye.