Dr. Ronald Ostrowski, PhD.
Professor Linda McNally, M.S.
In the early 1800s, a Scottish ophthalmologist named James Wardrop first diagnosed
Retinoblastoma (see Child Hood Cancer website) as a genetic disorder that causes tumors to form in
the eye. The cause of retinoblastoma is a deletion in chromosome locus 13q14. Retinoblastoma can be
either an autosomal dominant or a de novo, new to family, disorder (Eye Cancer Network website).
Retinoblastoma always occurs in children and is usually diagnosed by 18 months of age. The current
treatment for retinoblastoma is either enucleation, removal of the eye, eye-sparing radiotherapy, and
more recently chemotherapy-based multimodality therapy (see Eye Cancer Network website).
Fig 1. A retinoblastoma protein. (Picture taken from Intouch-live website.)
Retinoblastoma is a type of eye cancer that is caused by a deletion in chromosome locus
13q14. Retinoblastoma was first described as a distinct disease in the early 1800s by a Scottish
ophthalmologist James Wardrop. Wardrop claimed that enucleation, removal, of the affected eye was
the correct treatment for retinoblastoma. If not treated, the patient would be killed because the cancer
would spread to the brain through the optic nerve. At this early time period no one was cured because
treatment always came too late in development of retinoblastoma. Also many people refused treatment
because general anesthesia did not yet exist.
In the mid-nineteenth century, the invention of the ophthalmoscope and general anesthesia
allowed retinoblastoma to be diagnosed early enough for treatment to be successful. By the late
1800's, cures were available for retinoblastoma patients. As survivors reached adulthood and had
children with the disease, scientist claimed that the disease was hereditary. The first record of a
hereditary case of retinoblastoma appears in the Royal London Ophthalmic Hospital Reports of 1905
(see Childhood Cancer website).
The term retinoblastoma came about through Dr. Frederick Verloeff, an ophthalmologist in
the 1920's. This name derives from the idea that the tumor arose from embryonic retinal cells called
retinoblasts. This was later proven correct and also explains why the cancer appears in childhood (see
Childhood Cancer website).
By the 1950’s it was clear that only 30% of retinoblastoma cases were in fact hereditary.
However, it was difficult to differentiate hereditary retinoblastoma from non- hereditary forms. The
chief distinction is that nonhereditary will most often have a single tumor in one eye, while hereditary
causing retinoblastoma often have multiple tumors (see fig 2), usually in both eyes. In the 1960's and
1970's the gene that causes retinoblastoma was discovered to be located on chromosome 13. Today
hereditary retinoblastoma can be diagnosed using recombinant DNA techniques (see Childhood
How and why does retinoblastoma occur, how is it diagnosed, and what is the prognosis of
Fig 2. This is a picture of a retinoblastoma eye that has multifocal (multiple) tumors. (Picture taken
from Eye Cancer Network website)
Retinoblastoma is usually diagnosed around the age of 18 months. People can have mutation
analysis done of the RB1(see fig 1) gene on chromosome locus 13q14 in white blood cells (Eye
Cancer Network). A regular technique that can be also used involves the examination of the fundus of
the eye using indirect ophthalmoscopy. If retinoblastoma is common in a family, it will be monitored
in all of the children in that family (see Geneclinics website). A karyotype, or mapping of the
chromosomes, can always be done to check for the deletion of the chromosome locus 13q14.
Retinoblastoma results either from a deletion on chromosome locus 13q14 or an autosomal
dominant that is passed through the family. When a genetic deletion occurs, it results in an absence of
a tumor suppressor gene Rb, which is thought to cause retinoblastoma (see Genes and diseases
website). Retinoblastoma affects one in 20,000 people (see In-touch live website).
The phenotype of retinoblastoma involves a white pupillary reflex (see fig 3) (leukocoria).
Strabismus is the second most common presenting sign and may accompany or precede leukocoria.
Unusual presenting symptoms include glaucoma, orbital cellulitis, uveitis, hyphema or vitreous
hemorrhage (see Geneclinics website). Tumors can be either unilateral, one eye, or bilateral, both
eyes. In some cases multiple tumors form on the eyes, which are multifocal (see fig 2). The tumors
also begin to form in the fetal stage and continue to grow until they are removed or until the child dies
(see Eye Cancer Network website).
Fig 3. A picture of a “white pupil’ on a person with retinoblastoma. (Picture taken from A Parents
Guide to Understanding Retinoblastoma website).
Retinoblastoma can be a fatal disease if not cured. If unchecked the patient will eventually die
because the tumors will spread to the brain through the optic nerve and destroy and kill them. If
diagnosed early, there is a 90% chance that retinoblastoma will be cured and the child will live a
healthy life; however, sometimes both eyes have to be removed (Eye Cancer Network). With today’s
medicines, retinoblastoma has become a less severe genetic disorder than it used to be, especially now
it can be easily detected.
Eye Cancer Network, http://www.eyecancer.com/conditions/Retinal%20Tumors/ retino.html,
July 9th 2001
Geneclinics, http://www.geneclinics.org/profiles/retinoblastoma/, July 9th 2001
Genes and diseases, http://www.ncbi.nlm.nih.gov/disease/Retinoblast.html, July 9th 2001
cancergenetics/rbwhat.htm&3, July 9th 2001
A Parents Guide to Understanding Retinoblastoma website, http://www.retino
blastoma.com/guide/guide.html, July 9th 2001
Retinoblastoma - Childhood Cancer - Cancer of the Eye, http://www.childhood-cancer.com/