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I was born with Congenital Ptosis/Telecanthus/Epicanthus. Is

there a connection between this...
I was born with Congenital Ptosis/Telecanthus/Epicanthus. Is there a connection between this and developing Cervical Spondylosis at the age of 22? (Now 38) Crippled with Cervicogenic pain.
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Answered in 8 hours by:
4/8/2010
Dr. JP
Dr. JP, Ophthalmology, Oculoplastic Surgery
Category: Eye
Satisfied Customers: 28
Experience: Harvard Medical School, Massachussetts Eye and Ear
Verified

The findings you mentioned are associated with blepharophimosis syndrome. I haven't heard or read about an association with cervical spodylosis. It could be however this would likely be the first documented association and would be something that should be put into the ophthalmic literature. I'd recommend a thorough eye exam and then if I was your physician would refer to a neurologist and a pain specialist to see if they could help you with some relief.

Regards.

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Customer reply replied 7 years ago

Thanks, ***** ***** that syndrome yesterday but it was too complicated to understand! I've had photophobia from birth too. I wear dark glasses. Why have I got this syndrome, is it chromosomal?

Please can you give me a basic breakdown of the symptoms ets because it's too complicated to understand and I;m in agony looking at the computer with my neck. The cervicogenic headaches are crippling and now they say I can't have anti-inflammatries anymore. What chromosome is involved? Not sure in the UK if they would do a check unless I can present them with clear details. I'm also infertile, my ovaries don't seem to work. I had Metrodin but only produced 1 egg and they said they gave me the equivalent of dynamite. They they thought I may have a cleft palate when I was born but then said no, it's just short. They also thought I was blind. They drained fluid off the top of my head too. I've lookd up Dubowitz, but it doesn't seem to be what it is. Although, I'm only 4 ft 11. My Brother is Down's Syndrome and they tested his neck for weakness. They said to Mum that he wouldn't have been down's if he had been a girl?????? Are our conditions linked???? His neck is fine, THANK GOD but I've got the bad neck. Been 16 years now and I'm in agony. Just wondred if there was a link. I've ill, actually dragging myself about with exhaustion for 6 years, they said it was M.E but think more like Fibromyalgia. Would be happy to go in any medical journals! Please help all you can. I don't not have any quality of work because of the pain in my eye socket. The nerve which is in the gap in the bony ridge it said is the problem, name????? Couldn't find it's name or where it runs to. Looked tlike up to the top of the head somewhere in the tiny diagrams in the ressearch I found. That's what's agony. It said to press it and endorphins are released. tried it, doesn't work. Usually my left side but occasionally right. Then develops into a migraine and all I can do is go to bed. sorry to go on but there's no-one else to ask. I see an neutrologist alreeady. I have Blephorapspm and so have injections every 3 months. I don't have enought tears and so my eyes fill with yello gunge. They're always crusted up in a morning adn I bathe them with hot flnnels. If any of the crusts go in my eyes then it's agony. My eyelasheds were growing inwards at each corner so I had thm removed surgically in each corner. That's helped in the outside corners but he didn't take out the fine white ones on the inner and so the yellow sludge remains.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (also called BPES) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.

People with BPES are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia). They may also have eyes that do not point in the same direction (strabismus) and lazy eye (amblyopia) affecting one or both eyes.

There are two types of BPES. Type I consists of the four major features of blepharophimosis, ptosis, epicanthus inversus, and telecanthus, plus premature ovarian failure. Premature ovarian failure causes a woman's menstrual periods to become less frequent and eventually stop before age 40, leading to a partial or complete inability to conceive a child (subfertility or infertility, respectively). Type II consists of only the eyelid malformations.

How common is BPES?

The prevalence of BPES is unknown.

What genes are related to BPES?

Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is involved in the development of the eyelids and the ovaries before birth. The FOXL2 protein is also active in the ovaries throughout adult life.

Some FOXL2 gene mutations impair development of the eyelids only, while others also affect development of the ovaries. Mutations that affect the functioning of the FOXL2 protein in the eyelids and ovaries result in BPES type I. Mutations that affect the functioning of FOXL2 protein only in the eyelids result in BPES type II.

Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown.

Read more about the FOXL2 gene .

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

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Customer reply replied 7 years ago

Thanks, ***** ***** simpler than I've read. I printed out 25 pages of an article today. In the process of highlighting relevent bits! I asked my GP 2 years ago to test to see if my ovaries were failing. He said that they weren't. I am wondering if in fact that my neck and bones are crumbling as a result of the lack of oestrogen. It would certainly fit. All I need to know is now is about testing. What do I say to my GP? I DO have this condition, I have all 4 symptoms, RECORDED IN MY MEDICAL NOTES. Just not sure if I have the ovary bit but I suspect I do. Please could you just recommend a way that I can present this to my GP???? I was born in 1971, could you please tell me when thius condition was discovered. I need to know they didn't test me for this. CRUCIAL. I have never ever had any support or advice. Years of infertility treatment. I can justify all this in my head if I can say to myself 'Well, they didn't know of these findings until............'

Thank You so much, I thought I was going insane. Now I know that what I have is not just a collection of random symptoms. Going to ask for a bone density scan. 38 years of medical malpractice, of being laughed at and ridiculed and not taking seriously.Kind regards, Bobbie.

Tell your GP that you'd like to see a genetics specialist to help you council your family about risk fyour childrens children etc.. Then I think you may benefit in seeing an endocrinologist who would better understand how the estrogens ect are related to your bone issues.

Regards.

Dr. JP
Dr. JP, Ophthalmology, Oculoplastic Surgery
Category: Eye
Satisfied Customers: 28
Experience: Harvard Medical School, Massachussetts Eye and Ear
Verified
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Satisfied Customers: 28
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Experience: Harvard Medical School, Massachussetts Eye and Ear

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