Retinoblastoma
Symptoms
Because retinoblastoma mostly affects infants and small children, symptoms aren’t common. Signs you may notice include:
- A white color in the center circle of the eye (pupil) when light is shone in the eye, such as when someone takes a flash photograph of the child
- Eyes that appear to be looking in different directions
- Poor vision
- Eye redness
- Eye swelling
When to see a doctor
Make an appointment with your child’s doctor if you notice any changes to your child’s eyes that concern you. Retinoblastoma is a rare cancer, so your child’s doctor may explore other more common eye conditions first.
If you have a family history of retinoblastoma, discuss it with your doctor if you’re planning to have children.
Causes
Retinoblastoma occurs when nerve cells in the retina develop genetic mutations. These mutations cause the cells to continue growing and multiplying when healthy cells would die. This accumulating mass of cells forms a tumor.
Retinoblastoma cells can invade further into the eye and nearby structures. Retinoblastoma can also spread (metastasize) to other areas of the body, including the brain and spine.
For most instances of retinoblastoma, it’s not clear what causes the genetic mutation that leads to cancer. However, it’s possible for children to inherit a genetic mutation from their parents.
Retinoblastoma that is inherited
Gene mutations that increase the risk of retinoblastoma and other cancers can be passed from parents to children.
Hereditary retinoblastoma is passed from parents to children in an autosomal dominant pattern, which means only one parent needs a single copy of the mutated gene to pass the increased risk of retinoblastoma on to the children. If one parent carries a mutated gene, each child has a 50% chance of inheriting that gene.
Although a genetic mutation increases a child’s risk of retinoblastoma, it doesn’t mean that cancer is inevitable.
Children with the inherited form of retinoblastoma tend to develop the disease at an earlier age. Hereditary retinoblastoma also tends to occur in both eyes, as opposed to just one eye.
Eyelid Tumours
What Is Eyelid Tumors?
Eyelid tumors are abnormal growths around the eyes that may be either benign or malignant. While basal cell carcinoma is the most common malignant type of tumor, several other types may occur along the eyelid as well. Benign growths such as simple cysts or styes (chalazia) may also occur. Too much exposure to sunlight is a significant risk factor for developing skin cancer of the eyelids.
What are the symptoms of eyelid tumors?
Often, eyelid tumors may be symptom-free and are only noted as a growth along the eyelid. In other cases, redness, pain, discharge, bleeding, loss of eyelashes, or erosion of the surrounding skin may indicate that a tumor is present.
Diagnosis of Eyelid Tumors
Careful examination by an experienced physician is performed to evaluate these lesions. Often, these growths will be photographed for further evaluation. A simple biopsy can determine the nature of an eyelid tumor, and treatment often depends on the results of the biopsy.
While the prognosis for eyelid tumors is generally quite good, they must be evaluated and treated promptly. If left untreated, these lesions can grow, and can infiltrate and erode the eye and its surrounding structures.
Treatment at Penn
After a biopsy is performed, some tumors will not require any further treatment, while others can be managed with surgical removal, medical treatment, or radiation. If surgical removal becomes necessary, plastic surgery techniques can be used to repair the appearance and function of the eyelid.
OSSN
What is it?
Ocular surface squamous neoplasia (OSSN) is a common malignancy of the conjunctiva and cornea. It can be thought of as a “skin cancer” of the eye.
Clinical features
Typical features of OSSN include:
- Arises near the limbus (junction of cornea and sclera)
- Most commonly found at the 3 or 9 o’clock position
- Fleshy, gelatinous appearance
- Round or oval shape
- Irregular blood vessel pattern
- Minimal symptoms
- Slow growing
Who gets OSSN?
OSSN is more common in patients who are:
- Older
- Have had significant sunlight exposure
- Are taking immune system supressing drugs
Differences between OSSN and pterygia
OSSN can mimic a pterygium. In general pterygia:
- Occur at a younger age
- Are more triangular in shape
- Appear flatter rather than gelatinous
- Have more linear blood vessels
- Cause more symptoms
How is it diagnosed?
Some OSSN are first noticed by patients and their friends. In most cases the diagnosis is made by an optometrist or ophthalmologist.
Unusual looking pterygia and definite cases of OSSN are referred to eye specialists for examination with the slit lamp microscope.
OSSN may look very like a pterygium and in some cases only surgical removal and examination of the abnormal tissue by a pathologist will confirm the diagnosis.
Medical treatment
Some OSSN can be treated by chemotherapy with Mitomycin C eyedrops.
Mitomycin C (MMC)
MMC is a drug used to treat some types of cancer and to reduce scarring after surgery. It is regularly used in a number of eye conditions including glaucoma surgery. MMC has been used to treat OSSN for the last decade.
MMC in OSSN
MMC is used to treat OSSN when:
- Patients decline surgery
- Tumours are small
- Surgery was unsuccessful in removing all the tumour
- The tumour is aggressive or invasive
- Surgical removal of a large tumour would threaten the viability of the eye
Treatment with MMC
Same eye as above, following successful treatment of OSSN with Mitomycin C.
Patients with suspected or confirmed OSSN typically receive a course of treatment:
- Four times a day
- Week on, week off cycles
- For two to four cycles
Risks of MMC
The risks of MMC therapy are very low but include:
- Failure to achieve eradication of the tumour
- Irritation of the surface of the eye
Surgical Treatment
The traditional treatment of OSSN is surgery.
Indications for surgery
Some patients are best treated by surgical excision. This includes those with:
- Large tumours
- An uncertain diagnosis
Surgery for OSSN
Removal of OSSN is usually performed under local anaesthesia. Traditionally at the time of surgery the surrounding area was frozen or painted with alcohol to eradicate any residual tumour cells. Now the tumour is simply excised and follow up treatment with Mitomycin C is arranged if the diagnosis is confirmed by a pathologist.