Definition:
Retinoblastoma pertains to cancer of the retina that affects children. If untreated, retinoblastoma is almost invariably fatal.
Diagnosis:
The indicative white reflex in the pupils of affected children can be attributed to other unrelated causes. However, a closer ophthalmologic examination can rule out other possibilities. In fact, a more thorough evaluation by an ophthalmologist is almost always necessary to diagnose this potentially fatal disease. In children with a family history of the disease, a routine check-up by an ophthalmologist is required.
Treatment:
Until recently, the only treatment available for retinoblastoma was to remove the affected eyeball to prevent the cancer from spreading. Today, chemotherapy is the preferred mode for unilateral retinoblastoma. In advanced cases where both eyes are involved, however, external beam radiation may be required.
Most children with bilateral presentations can be treated with attempts at preservation. Medications such as tumor chemoreduction with carboplatin and the like can reduce the volume of the tumor, thus making it susceptible to local modes of therapy.
Symptoms and Signs:
The retinoblastoma tumor usually remains undetected, since most affected children hardly complain of poor vision. The most common symptom is leukocoria, or a white reflex behind the pupil of the eyes. As it resembles the eyes of felines, this symptom is sometimes referred to as the cat's eye reflex.
In addition, retinoblastoma may present as poor vision, a tell-tale squint (crossed eye), inflammation of tissues surrounding the eye, painful red eye, and a visible protrusion of the eye ball, among others.
Causes:
The development of the retinoblastoma tumor is caused by mutations of the RB1 gene, which was first identified in October 2007. The RB1 gene is responsible for coding retinoblastoma protein.
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