Hearing that your baby has cancer is one of the scariest moments in a parent’s life. We invite you to watch this touching testimonial from the mother of one of Dr. Amy Schefler’s pediatric retinoblastoma patients. Her son was diagnosed with eye cancer at four months of age and they ultimately relocated their family to Houston to be under Dr. Schefler’s care. Dr. Schefler and her team are honored to care for your child and treat them as if he/she were their own.

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Chapters

0:00 Introduction
0:13 What is cancer?
0:26 What is Retinoblastoma
0:42 What are the causes of Retinoblastoma
2:04 What are the signs ans symptoms of Retinoblastoma
2:34 How is Retinoblastoma diagnosed?
3:00 What is the treatment for Retinoblastoma





Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,[1] the light-detecting tissue of the eye.[2] It is the most common primary malignant intraocular cancer in children, and it is almost exclusively found in young children.[3]

Though most children in high income countries survive this cancer,[1] they may lose their vision in the affected eye(s)[4] or need to have the eye removed.[1]

Almost half of children with retinoblastoma have a hereditary genetic defect associated with retinoblastoma. In other cases, it is caused by a congenital mutation in the chromosome 13 gene 13q14 (retinoblastoma protein).[5]
Signs and symptoms
Leukocoria in a child with retinoblastoma
Crossed eyes in a child with retinoblastoma

Retinoblastoma is universally known as the most intrusive intraocular cancer among children. The chance of survival and preservation of the eye depends fully on the severity. Retinoblastoma is extremely rare as there are only about 200 to 300 cases every year in the United States. Looking at retinoblastoma globally, only 1 in about 15,000 children have this malignancy but these numbers continuously increase.[2]

Intraocular malignancies are more curable rather than extraocular malignancies due to early diagnosis and an early treatment prognosis. During infant screenings, if they incorporate an eye screening like they do a hearing screening, it can be detected at an earlier age, therefore, preventing its spread. Leucocoria is the primary indication of retinoblastoma and is when the cancer is still intraocular, meaning inside the eye. When light is reflected by the white tumor, the view of the red retina is blocked. Retinoblastoma can be curable after the initial sign and up to six months, if the tumor is intraocular. If you do not visit an ophthalmologist with signs of leucocoria within a reasonable amount of time, the delay in the diagnosis could lead to a more severe prognosis. Due to a delay in the diagnosis, it could result in proptosis which is then considered extraocular, the most severe.[6]

The most common and obvious sign of retinoblastoma is an abnormal appearance of the retina as viewed through the pupil, the medical term for which is leukocoria, also known as amaurotic cat's eye reflex.[3] Other signs and symptoms include deterioration of vision, a red and irritated eye with glaucoma, and faltering growth or delayed development. Some children with retinoblastoma can develop a squint,[7] commonly referred to as "cross-eyed" or "wall-eyed" (strabismus). Retinoblastoma presents with advanced disease in developing countries and eye enlargement is a common finding.[8]

Depending on the position of the tumors, they may be visible during a simple eye examination using an ophthalmoscope to look through the pupil. A positive diagnosis is usually made only with an examination under anesthetic (EUA). A white eye reflection is not always a positive indication of retinoblastoma and can be caused by light being reflected badly[9] or by other conditions such as Coats' disease.[10]

The presence of the photographic fault red eye in only one eye and not in the other may be a sign of retinoblastoma. A clearer sign is "white eye" or "cat's eye" (leukocoria).[11]