Retinoblastoma is a cancer of the eye in children. It originates from the retina, the light sensitive layer, in eye. It is the commonest eye 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 treatmentIs it hereditary?
Yes in some cases it may be hereditary. Majority of cases (90%) has 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 in 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 may be 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 (crossed eye), poor vision, 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.
If a child has been diagnosed to have retinoblastoma in one eye, can he also develop the same disease in the other eye?
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.
Is the child also at a risk for other diseases or tumors?
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. Your ophthalmologist will discuss these issues with you.
My child has been diagnosed to have retinoblastoma. Should I get my other children examined as well?
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.
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