FAQ - fuchs' endothelial dystrophy
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What are the chances that I will inherit Fuchs' dystrophy if my grandma was the first to be diagnosed?


My grandma who is in her mid-50s was recently diagnosed with Fuch's corneal dystrophy. I know that this is a dominant genetic disease but she is the first one in my family to be diagnosed. Is it quite possible that I will inherit this disease or is it possible that she is the only one in my family who will be affected by this disease?
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Fuchs' Corneal Dystrophy is a genetic, autosomal dominant disease with high penetrance. With this kind of gene each child born from a parent carrying the disease has a 50% chance of getting the Fuchs' Dystrophy gene, and a 50% chance of getting a normal gene and NOT getting Fuchs' Corneal Dystrophy. Therefore, each grandchild has a 25% chance of getting Fuchs' Corneal Dystrophy.

This means that you should be checked on a yearly basis to see if you are "Fuchs' Dystrophy Free". Even you do have the gene, it doesn't mean you will develop Fuchs' Dystrophy. Just be diligent in getting your eyes examinations yearly and be aware of any vision problems that you might develop down the line. My prayers go out to your grandma for her eyes to become pain-free.  (+ info)

Is there anyone in Adelaide or SA with Fuchs Dystrophy?


I was diagnosed with it today, is there a specialist in Sa?
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There are plenty of specialists in SA - ask your optometrist for a referral if you wish, although your optometrist can probably help you manage it just as well unless it is particularly severe.

Dr Mark Chehade is probably the most prominent corneal opthalmologist in Adelaide, but you could see any specialist, it's a relatively common conditon.  (+ info)

would laser eye surgery now, affect fuchs dystrophy in the future?


my father has fuchs dystrophy in his eyes, this is a hereditary condition, what would the implications for in my early 20's having laser eye surgery now, be on my suffering from this condition later in life?

thanks
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Since you have a genetic predisposition for Fuchs' (Fuchs' Endothelial Corneal Dystrophy) you would not be considered a candidate for laser eye surgery.
Fuchs' is a rare genetic disease which affects the innermost layer of the cornea called the endothelium. The endothelium is covered with thousand of cells which pump water out of the cornea to help keep our vision clear. As we age these cells begin to die off naturally at a slow rate never really affecting our vision. With Fuchs' however, these cells die off at a much more rapid pace making it hard for the remaining cells to pump out water, causing distorted vision. Vision may eventually become so impaired that corneal transplants are needed.
Since the laser is used to reshape the cornea this trauma may cause the endothelial cells to die off at a much more accelerated rate in someone with a pedisposition for Fuchs'. It's possible you may never develop Fuchs' or have such a mild case which will never really affect your vision. But since the odds are 50/50, why take the risk?
Any reputable Ophthalmologist will tell you you are not a candidate for laser surgery. The first surgery was done in 1998, so the long-term results are not known. There have been recent studies which suggest there have been more patients harmed by Lasik surgery that previously known.
I was diagnosed with Fuchs' when I was 37 years old. The first thing the Ophthalmologist told me was I was not a candidate for Lasik. I'm 40 now and have noticed a significant change in the vision of my right eye and will probably need a corneal transplant in the near future.
I've included some helpful links for you. But remember Fuchs' Dystrophy is a rare eye disease. Only 1% of the general population have it. There are too many doctors out there who just don't know enough about Fuchs' or just don't know. So it's very important for you and your father have a good corneal specialist who has experience in all stages of the disease.
Good luck!!!
  (+ info)

What is corneal endothelial dystrophy?


I went to an optometrist and they told me that I have this and that I need special contacts to let my corneas breathe. Do I need to worry about this?
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This sounds like a cousin of Fuch's dystrophy, which is an abnormality of the bottom of the five cell layers of the cornea. But the matter is of sufficient importance to warrant a detailed conversation with an ophthalmologist.
  (+ info)

Possibilities of Fuchs' Dystrophy?


I am a 26 year old female and have terrible vision. My contact prescription is -9:50. Even with corrective vision there is always a blur around lights and my vision is never very good either. My grandmother and father and 3 of his siblings all have been diagnosed with Fuchs' Dystrophy . So I know my chances are high becasue of that and that I am a female. I know most people do not exibit signs until 50-60's sometimes as early as 30-40 My grandmother was 70 when she was diagonosed and my father was 42. My main questions; Are there people who have had it diagnosed at a youunger age? Will my regular optomestrist be able to diagnose it? Is it some thing they would notice with out being asked to look for? Would it prevent me from getting Lasik ?
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Some people are diagnosed in their 30's.
I couldn't find anything on people being diagnosed younger.
I think you really need to see an ophthalmologist to diagnose & treat it.
They may be able to diagnose it without being asked, but you need to tell MD all your symptoms...& give history of family.
I don't know if you can get Lasik, but you might be able to get another method.

Best of luck  (+ info)

How long will muscular dystrophy telethon go on?


Doesn't most muscular dystrophy patients have insurance?

I would think if they are poor they would have medicaid.

So, are most of the money made during the telethon go to research?

Not making much progress are they? I think they've been doing the telethon for over 30 years at least.

I think it's a scam.
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It will be on for 24 hours.  (+ info)

Can a concussion from falling cause the nerve disorder reflex neurovascular dystrophy?


My eldest daughter participates in an after school activity and she accidentally locked her knees and fell. When she tried to get up, she was pushed back down and she clunked her head again. Then she was made to continue a strenuous exercise. This all was 5 months ago. Now she has been diagnosed with reflex neurovascular dystrophy. Can this past trauma cause this nerve disorder?
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A neurologist is the best to give you the answer you need. But your brain is command central for your body including your nervous system. An brain injury can damage any thing that the brain controls. So I wouldn't rule it out. I still deal with all sorts of weird symptoms 6 years after my accident.  (+ info)

What is the probability of a couple having a child with Muscular dystrophy if the mother is carrier?


the mother is the carrier and the father unaffected. they have a son already with muscular dystrophy. another child is expected.
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Duchenne Muscular Dystrophy (DMD), the most common form, is one of 9 types of muscular dystrophy. The sons of female carriers each have a 50% chance of having the disease. The daughters of female carriers each have a 50% chance of becoming carriers themselves but will not have the disease if the gene is linked to DMD. But since you haven't stated which type of dystrophy the existing son has, I'm not able to work with complete information and I'm going on the assumption that the child has DMD.  (+ info)

Where does duchenne muscular dystrophy strike most?


I need information on duchenne muscular dystrophy, where does it strike most? Like, what part of the body does it affect the most? What new information from scientists is there that has to do with duchenne muscular dystrophy? How far are they in the research?
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Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, only males are afflicted, though females can be carriers. Females may be afflicted if the father is afflicted and the mother is also a carrier/ affected. The disorder is caused by a mutation in the gene DMD, located in humans on the X chromosome (Xp21). The DMD gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane.

Symptoms usually appear in male children before age 5 and may be visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aid in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD varies from late teens to early to mid 20s. There have been reports of a few DMD patients surviving to the age of 40, but this is extremely rare  (+ info)

What type saline eye drops can be used for Fuch's dystrophy?


I have a condition called Fuch's Dystrophy in my corneas. Saline drops can be used, but I need to know what strength, if you need a prescription, or if you can buy it over- the -counter. This condition causes fluid to build up--saline drops supposedly help to dry it up.
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Regular saline eye drops will not help. This is because standard saline solution and standard types of ocular lubricating drops are formulated to match the normal saline content of your tears. In order to cause fluid to transfer out of the cornea you must create an osmotic gradient. What that means is you must put a drop in the eye that is HYPER tonic -- contains much more salt than normal tears. The higher than normal salt content will cause fluid to osmoticly flow from the cornea (a lower salt environment) into the hypertonic solution (a higher salt environment). You must use something like MURO 128 to achieve this effect. Contact your doctor. He or she will be able to get you some MURO 128.  (+ info)

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