Health Chats
Inherited Eye Disorders
Wednesday Jun 02, 2010, 12:00PM - 01:00PM (EST)
Elias Traboulsi, MDBlank
Head, Department of Pediatric Ophthalmology and Director of the Center for Genetic Eye Diseases
Cleveland Clinic Cole Eye Institute
Genetics Institute and Cole Eye Institute, Cleveland, OH
Inherited Eye Diseases constitute a significant proportion of causes of congenital and childhood blindness in developed and developing countries. Genetic factors play a major role in common eye diseases such as errors of refraction, glaucoma and age-related macular degeneration. In the last decade, more than 400 genes involved in eye diseases have been discovered and that information has provided an insight into underlying pathogenic mechanisms and has paved the way to therapies including gene therapy that has been successful in one form of Leber Congenital Amaurosis, a leading cause of inherited childhood blindness. Take this opportunity to chat with an expert on genetic eye diseases. Dr. Traboulsi is an ophthalmologist at Cleveland Clinic’s Cole Eye Institute and has expertise in the diagnosis and treatment of genetic eye disease. His expertise and experience attracts patients from all over the world who seek a definitive diagnosis or state-of-the-art treatment. Dr. Traboulsi is a Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case University. His areas of expertise include in addition to genetic diseases of the eye, pediatric ophthalmology and adult strabismus.
MedHelp:
Hello Everyone! The health chat is going to start soon.  Please feel free to start submitting your questions.
MedHelp:
Welcome to the Inherited Eye Disorders Health Chat.
MedHelp:
A  special Thank You to Dr. Traboulsi and all members for joining us here today!
Elias Traboulsi, MD:
It is my pleasure. Thanks for having me!
katscan:
My dad was diagnosed with floppy eyelid syndrome and has had several surgeries to correct it. I've heard that this can be inherited -- we are of Scandinavian descent. Is there anything I can do to prevent it? Thanks!
Elias Traboulsi, MD:
Evidently a lot of our physical traits are determined genetically. So is the structure of our lids.
Elias Traboulsi, MD:
Floppy Eye lid syndrome is a very specific diagnosis
Elias Traboulsi, MD:
If you do not have it so far, It would be unlikely to develop it later. Do you have any signs of it?
Elias Traboulsi, MD:
I suspect that it would be unlikely that you will develop it. And in any event, I am not aware of means to prevent it
Jibs1:
Is nearsightedness genetic?  I have four children. All 4 wear glasses in varying prescriptions (from reading only to all the time), but thankfully none of them have extremely poor vision like I have had since 3rd grade.  My husband wears glasses of average correction.
Elias Traboulsi, MD:
Errors of refraction (need for galsses) are definitely genetically determined, with a contribution from environmental factors.
Elias Traboulsi, MD:
There are probably a large umber of genes and the ones that determined your own high error of refraction may not be operative in your children.
Elias Traboulsi, MD:
If your children are already of an age when they did not develop the high refractive error, they will probably not have it as high as you do.
auntiejessi:
My aunt has macular degeneration.  How likely is it that her adult children will develop it, and then their children?  She is very concerned about this and can't seem to get any real answer.
Elias Traboulsi, MD:
Macular degeneration is a heterogeneous condition, meaning that there are a number of different types that look alike. There are definite genetic underpinnings, but probably a larger number of environmental factors.
Elias Traboulsi, MD:
familial occurrences of macular degeneration are known and relatively common, but it is difficult to determine a specific risk or % risk of children of an affected individual developing it.
Elias Traboulsi, MD:
The best thing to do for children of affected patients is to avoid factors that are known to increase the risk of macular degeneration such as smoking and exposure to excessive UV light
Elias Traboulsi, MD:
Regular eye examinations are also important. If one is determined to have "drusen" (precursors of macular degeneration, then surveilance is increased.
fred237:
I am 73 years old and an artist and sculptor. My eyes are my livelihood. After taking a scan of my eyes, my optimalogist has informed me that I have some preliminary signs of age-related macular degeneration (dry?). He said I probably have 10 years before my vision would be impaired. He prescribed me taking an over the counter I-Caps multi-vitamin. He claims that the Lutein and Zeaxantin are the main Vitamins essential perhaps for slowing the progression.  I started taking these. However, I also bought a Lutein Carotenoid complex 15mg with 25,000 Vit A; Super Zeaxanthin with Lutein 3.75 mg (free lutein equivalent to 10mg.) and OptiZinc (zinc 30mg and copper 300mcg.  I also combine these with Vitamin E 400 IU. Is there anything more I can do?  As an artist, this is very sobering and most frightening  Or, can one perhaps takes too much of these vitamins. I usually alternate between the I-Caps one day and the supplements the next.  Thank you for your advice
Elias Traboulsi, MD:
Hi Fred
Elias Traboulsi, MD:
I am a fellow artist and one of my teachers also has eye problems and some vision impairment so I know exactly how you feel
Elias Traboulsi, MD:
It is totally impossible to predict the course of macular degeneration and nobody can tell how "fast" vision is going to be lost
Elias Traboulsi, MD:
Supplements shave been shown to slow down the course of some types of macular degeneration. I am not sure about the doses that you take. The dose of vitamin A sounds a little too high.
Elias Traboulsi, MD:
Please check with a vitreoretinal specialist for recommendations on these does and "Keep Painting!"
goatgirl:
My husband has a strong family history of glaucoma on the paternal side of his family (father, grandmother, great aunt).  He is currently in his mid-40's and was told at his last eye exam that the pressure readings in his eyes were quite high for his age.  Could this be the beginning stages of glaucoma?  What precautions can he take now to slow the progression down?  Are there other factors that can lead to high eye pressure readings (i.e. high blood pressure, stress, etc.)?  Isn't he too young to start exhibiting symptoms of glaucoma?  What are our sons chance of developing glaucoma?  We had heard (perhaps incorrectly) that this was more likely passed from fathers to daughters.  Is there any truth to this?  Thank you for taking the time to answer my questions.
Elias Traboulsi, MD:
Glaucoma, like age-related macular degeneration is another one of those adult-onset eye diseases with a strong familial predisposition
Elias Traboulsi, MD:
Whenever there is a strong family history and that intraocular pressure is elevated, the diagnosis is certainly very high on the list. Treatment in my opinion should be considered to reduce the pressure.
Elias Traboulsi, MD:
In most families with glaucoma, the inheritance is autosomal dominant, meaning that it could be passed on from parents of either sex to children of either sex. There is great variability in expression, meaning that some people who have the gene may show the disease while others may not.
kbms:
If both parents of a child have mild to moderate myopia, is it possible for the child to have either severe myopia or perfect eyesight?
Elias Traboulsi, MD:
Another common question about inheritance of errors of refraction. The answer is YES. Even if both parents have high myopia, the children may have no myopia. The reason is that there are several genes involved, some of which are recessive, and that there are also environmental factors.
Sarajmt:
My husband passed his Lazy Eye on to our 2 sons.  Our daughter was spared.  Both boys were successfully treated while still young.  What is the chance that my children will pass it on to their children?
Elias Traboulsi, MD:
This is a complex question. If the strabismus (Lazy eye) gene in your family is dominant, then each of your affected children will have it and will pass it on to 50% of his/her children.