Retinoblastoma
What Is Retinoblastoma?
Retinoblastoma is the presence of rapidly growing, immature cells accumulating into a malignant tumor (cancer) in the retina, which is the thin, light-sensitive nerve tissue lining the back of the eye.
The lone cause of retinoblastoma is a mutated genetic code in the nerve cells of the retina. The code is lacking the ability to stop the reproduction of normal cells (called retinoblasts) which formed the retina, leaving them immature and continually reproducing.
The mutation in the genetic code is sometimes hereditary. Typically, retinoblastoma affects both eyes if hereditary (bilateral retinoblastoma) and one eye if not (unilateral retinoblastoma).
Retinoblastoma can spread within the eye and outside of the eye if not treated promptly. To learn how retinoblastoma spreads and its stages, read Johns Hopkins Guide to Retinoblastoma.
How Is Retinoblastoma Diagnosed?
Retinoblastoma is typically identified well before the child is six years of age.
The childās caretaker often notices a white or gray disk (leukocoria) in the center of the eye in a photograph when a flash was utilized, or a pediatrician will notice leukocoria when shining a light into the eyes during a routine check-up.
Other symptoms a parent may notice are misaligned eyes (known as strabismus), redness or swelling of the eyes, or the childās complaints of eye pain. If you detect changes or long-lasting irritation in your childās eye or eyes, make an appointment with your childās doctor.
After symptoms are detected, your child will visit a pediatric ophthalmologist (eye doctor). The doctor will look at the eyes with specialized image testing (typically not invasive, yet your child will likely be sedated). If a tumor is detected, the diagnosis of retinoblastoma will be given.
Additionally, if a family member has a history of retinoblastoma, your childās eyes should be examined by an ophthalmologist. Genetic testing is also available to help determine an early diagnosis. An early diagnosis enables treatment to begin as soon as possible, greatly increasing the likelihood of a cure.
Are There Treatments for Retinoblastoma?
Yes, retinoblastoma has a cure rate of over 90 percent, assuming it has been treated promptly. Treatment will be planned and implemented by a team of specialized doctors, likely in a childrenās cancer hospital.
You and your childās team of medical professionals will weigh the intents of each treatment with their side effects. The teamās first priority is to rid your child of all cancer in order to save the life of your child; secondarily, the team will attempt to save your childās vision.
According to the American Cancer Society, treatment can include radiation, chemotherapy, cryotherapy (using cold temperatures to kill tumors), thermotherapy (using heat to kill tumors), photocoagulation (laser treatment to kill tumors), and surgery (including enucleation, removal of one or both eyes).
Your childās treatment plan will include routine screenings for any recurring cancer.
How Would You Describe the Eyesight of One with Retinoblastoma and How Will My Child Function with Retinoblastoma?
There is much variation in the quantity and quality of remaining useful vision for individuals with treated retinoblastoma. Remaining useful vision will depend on the size and location of the tumor. The greater the size of the tumor, the greater scar tissue will be present, resulting in cloudier vision (poorer visual acuity) or more substantial visual field loss. If the tumor is at the center of the retina (on the macula), sharp detailed vision and central vision will be significantly impaired. Of course, if one or both eyes are removed (enucleated), no vision from the removed eye(s) will remain.
In order to learn how your child uses any remaining vision, your childās teacher of students with visual impairments should perform a functional vision assessment. A learning media assessment will be conducted to determine which senses your child primarily uses to get information from the environment. These assessments, along with an orientation and mobility assessment conducted by a mobility specialist, will give the educational team information needed to make specific recommendations for your child to best access learning material and his or her environment.
You may learn your child has difficulty recognizing faces and facial expressions, accessing information from a distance, identifying small images or letters on paper, or traveling safely. If this is the case, your child may benefit from travel training from the mobility specialist, increased contrast of the environment, increased contrast of print by using a CCTV or screen-magnification software, and increased room and task lighting. Your child may also benefit from learning braille and utilizing assistive technology to more easily write, read, use the computer, and access information; and to utilize techniques and accommodations to perform activities with limited vision.
If your child has no useful vision, he or she must be taught to complete tasks without the use of vision. Your child will be taught braille, screen-reading software to use the computer, and other techniques for performing life-skills and academic tasks from the teacher of students with visual impairments.