Retinoblastoma or Congenital Cataracts

[Reb74]

I am terribly worried since a photo I took of my son clearly shows a white pupil.  His father has congenital cataracts.  But, I know this could also be cancer.  Would cataracts cause the same sort of look...can they look similar?  And how much of an emergency is this?  In other words, if my doctor won't see me tomorrow, should I go to an ER?

[kv123]

There seems to be a lot of fear with regard to white pupil reflex on these forums. Not to say it is something to disregard but it is not a sure sign of retinoblastoma. In combination with other symptoms, it is an indication that the child should be seen as soon as possible by a qualified ophthalmologist or ophthalmic oncologist. Some symptoms are identified by Sloan-Kettering as follows:

Most retinoblastoma patients have a white pupil reflex or leukocoria instead of a normal black pupil or red reflex. This abnormal white pupillary reflex is sometimes referred to as a cat's eye reflex.

Many times the parent is the first one to notice the cat's eye reflex. This white pupillary reflex may also be indicative of another disorder and does not always indicate retinoblastoma. An ophthalmologist can determine the correct diagnosis.

A crossed eye or strabismus is the second most common manner symptom of retinoblastoma. The child's eye may turn towards the ear (exotropia) or towards the nose (esotropia).

Children with retinoblastoma may also have the following symptoms:

a painful red eye
poor vision
inflammation of tissue surrounding the eye
an enlarged or dilated pupil
different colored irises (a condition known as heterochromia)
failure to thrive (trouble eating or drinking)
extra fingers or toes (a condition known as hexadactylism)
malformed ears
delayed development or retardation

When something like retinoblastoma or any serious condition is affecting a baby, you should look for other signs as well. For example, if the baby is crying more than what would be considered normal. When I was a baby, I grit my teeth so hard due to the pain that I shoved my 2 lower middle baby teeth back into my gums. My mother wondered where they went. They later popped out when my adult teeth came in. My eye showed a white reflex also. But it was not retinoblastoma. Retinoblastoma is a very serious condition and the sooner it is caught the better your chances are for saving the eyes and the life. Regular check-ups for well-baby care should be made as well as non-regular when symptoms are questionable. In my experience, I have become very cautious with doctors and in matters that are of a serious nature, a second and sometimes third opinion is a good thing and may save you more than you expect.

I pray your child does not have retinoblastoma and it is simply a bad photo. I am not a doctor, just someone that has lived through a serious eye disorder. I responded to another thread regarding a possible retinoblastoma but never heard what the final prognosis was. I added a word of caution about medical opinion and received no response. Perhaps it is an ethical issue that no-one likes to hear but it does happen, unfortunately. We place doctors on a very high pedestal and anyone granted such power can fall from grace. We've seen it in so many ways when we create our idols. Remember Tiger and all of our favorite athletes and politicians.

My response was on the following topic in another forum.  I pray it brings a little hope for the afflicted that life can still be beautiful after loss of sight and it brings caution to not act hastily and get another opinion, as well as reminding doctors of their duty to always be honest.

Picture for concerned about baby's eyes

by kv123, Nov 13, 2010 11:53PM
To: KATE535
I was wondering what the disposition was with your friend's baby. Was it retinoblastoma? Hopefully they got multiple opinions from multiple doctors before any surgery would have been considered. I was diagnosed with retinoblastoma at 13 months of age. My left eye was removed and an implant and prosthetic put in place. My right eye had 20/20 vision until age 45. My children (3 of them) had no sign of retinoblastoma and are all healthy. There are 2 forms of retinoblastoma (heredity and non-heredity). A significant sign of retinoblastoma is a displacement that can be seen on the long arm of chromosome 13. I was treated as a retinoblastoma patient by my original doctors for 20 years and always had to inform my doctors since then, particularly for my children, that I was a retinoblastoma patient. Also was advised not to have any children. I did not know until my daughter was born in 1991 that genetic work done on me in 1988 along with capture of the pathology report from 1955 proved that I did not have retinoblastoma but may have had a retinal detachment and possible Coats disease. My doctors that performed the enucleation concealed the truth throughout my life which was and still is very disturbing to me. Ironically, I located an article in the medical journals about 1000 eyes enucleated between 1949 and 1960. It identified a large percentage of eyes where pre-diagnosis was incorrect. A follow-up on that article led me to the AFIP in Washington. Oddly, they still had my eye in a paraffin block. I explained my situation, they reassessed the eye to validate original assay and sent me the results along with my eye. I sent the eye to my doctor that performed the genetic study as he was highly interested in completing his study. Conclusion as I mentioned above. A letter from my original doctors to my lawyer in 1976, while investigating the possibility of retrolental fibroplasia (excess oxygen during incubation at birth), stated there was no hospital malpractice as I had a very advanced case of retinoblastoma. Obviously and to today, I am very critical about the medical profession and ethics (or lack thereof). I would hope that with todays technology, as good as it is, a parent would still consider multiple opinions from multiple doctors before pursuing surgery. I am happy to be alive and giving up an eye to have that life is an equitable trade as I believe my doctor's main concern was to save me. What hurts is that honestly is sometimes not worth saving to some. Honestly is forgivable but deceit is perhaps another story. I pray your friend's child is doing well.

[Michael J Kutryb, MD]

If you are talking about a newborn it needs to be seen right away.  Regarding an adult, if the vision has been bad for a long time, it could wait a few days.