RE: Nystagmus/Strabismus

December 30, 2003

My son had surgery for his strabismus. I think they may have waited too

long or something though. I guess he had learned to use his eyes that way

and now he still uses that way. His eyes are always moving around. Not

sure if you would call that wobbly or not though. He doesn't even use his

right eye to see. When he looks at the tv or a book or anything his head is

always slightly turned so that he can see out of the other eye. When i

mentioned that to the eye doc. she said that it was fine. She said don't

correct him just let him look that way. Didn't make much sense to me. He's

5½ yrs old and he's been doing that since he was little. When he goes for

an exam he can read the board with both eyes, but when you cover up one eye

he can't see anything. It doesn't matter which eye you cover, he can't see

out of either. He has to use both eyes, but then again he always has his

head turned so i'm not sure what to think about that. He goes on the 7th to

see his surgeon. Hopefully we can get his surgery scheduled.

Sheely

December 30, 2003

bcrijns wrote:

> So life after the operation will be beter?

> I cant help but often think the opposite... not really but a little.

> The reason is that now my daughters eye's are so small

You mean her eye openings are small (blepharophimosis) not her eyes

themselves (microphthalmia), right?

I don't understand why you don't think the

bleph/ptosis/epicanthus-inversus surgery will make things worse or not

help? They might not directly help the strabismus or nystagmus, true,

but they'll make the other things better in so many other ways (and

indirectly they'll make the strabismus correction 'squint' operations

easier).

> you can

> hardly see the nystagmus or strabismus (wobbly eyes and slight

> crosseyed sight she has) The wobbly eyes are there to stay. Is there

> anyone out there that has both or one of these eyedisorders? Would

> love to talk to someone. Thanks. Bernice

I have strabismus but not nystagmus (my eyes 'tremble' but don't

'wobble'). I have had several 'squint' operations to straighten one eye

or the other but they still aren't quite straight or coordinated. I look

with one eye at a time and swap between the two. The inactive eye drifts

inwards until I use it again, at which point it snaps to the centre

again and the other eye then drifts inwards. Probably disconcerting to

people who are talking to me, I expect!? I therefore have poor binocular

vision, and experience no thrill at all at 3-D movies. Forget about

those red/green shifted photographs with the celophane lenses too - and

those new pictures with 3-D images among the abstract dot patterns

thingies. If I try to look with both eyes at once, I get disoriented and

walk crookedly (not a good idea during a sobriety test, I expect). Must

remember to give both eyes a turn when reading or driving, lest the

less-favoured one might get lazy(-er) and tired.

> PS We saw the opht. this month. Nina has to patch up 4 hours a day

> so her smaller left eye will function better. And the effect is

> unbelievable!! We now even have pictures of Nina on which both

> eyeopenings look the same instead of one smaller!

When I was little, I too had to wear a patch to even the eyes up. A

relatively short term thing? I also did occular therapy, some of which

involved looking into a binoccular scope thingy, with different but

related scenes for each eye such as Mickey Mouse for one eye and a cage

for the other. I then moved Mickey into the cage and followed him there

with my eye. Perhaps to encourage binocular vision? Didn't work for me,

though, d'oh!. I also vaguely recall having to hold a big letter 'E' at

various angles, to match what the occular therapist was doing with her

big letter 'E'. Not quite sure what the point of that exercise was, but

I can still recognise a letter 'E' anywhere.

There are lots of handy links to information for these and other

favourite eye disorders here:

http://directory.google.com/Top/Health/Conditions_and_Diseases/Eye_Disorders/

There's probably a page or two of links too.

Rob

December 31, 2003

Hello I too have strabismus. Also other eye disorders. I am 48 and diagnosed 2 years ago with (sp?) Keratanomis and Acute Conjungtivitis. I may or may not go blind from this. Please What diagnosis of BPES do you have? I have FOREVER been told that my vision dysfunctions and eye disease HAD NOTHING to do with Blepharophimosis type1. Any comments? I appreciate any and all comments.

Thank You.................. son

Rob <rawatson@...> wrote: bcrijns wrote:> So life after the operation will be beter?> I cant help but often think the opposite... not really but a little. > The reason is that now my daughters eye's are so smallYou mean her eye openings are small (blepharophimosis) not her eyes themselves (microphthalmia), right?I don't understand why you don't think the bleph/ptosis/epicanthus-inversus surgery will make things worse or not help? They might not directly help the strabismus or nystagmus, true, but they'll make the other things better in so many other ways (and indirectly they'll make the strabismus correction 'squint' operations easier).> you can > hardly see the nystagmus or strabismus (wobbly eyes and slight > crosseyed sight she has) The wobbly eyes are there to stay. Is there > anyone out there that has

both or one of these eyedisorders? Would > love to talk to someone. Thanks. BerniceI have strabismus but not nystagmus (my eyes 'tremble' but don't 'wobble'). I have had several 'squint' operations to straighten one eye or the other but they still aren't quite straight or coordinated. I look with one eye at a time and swap between the two. The inactive eye drifts inwards until I use it again, at which point it snaps to the centre again and the other eye then drifts inwards. Probably disconcerting to people who are talking to me, I expect!? I therefore have poor binocular vision, and experience no thrill at all at 3-D movies. Forget about those red/green shifted photographs with the celophane lenses too - and those new pictures with 3-D images among the abstract dot patterns thingies. If I try to look with both eyes at once, I get disoriented and walk crookedly (not a good idea during a sobriety test, I expect). Must

remember to give both eyes a turn when reading or driving, lest the less-favoured one might get lazy(-er) and tired.> PS We saw the opht. this month. Nina has to patch up 4 hours a day > so her smaller left eye will function better. And the effect is > unbelievable!! We now even have pictures of Nina on which both > eyeopenings look the same instead of one smaller!When I was little, I too had to wear a patch to even the eyes up. A relatively short term thing? I also did occular therapy, some of which involved looking into a binoccular scope thingy, with different but related scenes for each eye such as Mickey Mouse for one eye and a cage for the other. I then moved Mickey into the cage and followed him there with my eye. Perhaps to encourage binocular vision? Didn't work for me, though, d'oh!. I also vaguely recall having to hold a big letter 'E' at various angles, to match what the occular therapist was

doing with her big letter 'E'. Not quite sure what the point of that exercise was, but I can still recognise a letter 'E' anywhere.There are lots of handy links to information for these and other favourite eye disorders here:http://directory.google.com/Top/Health/Conditions_and_Diseases/Eye_Disorders/There's probably a page or two of links too.Rob

December 31, 2003

Hello I too have strabismus. Also other eye disorders. I am 48 and diagnosed 2 years ago with (sp?) Keratanomis and Acute Conjungtivitis. I may or may not go blind from this. Please What diagnosis of BPES do you have? I have FOREVER been told that my vision dysfunctions and eye disease HAD NOTHING to do with Blepharophimosis type1. Any comments? I appreciate any and all comments.

Thank You.................. son

Rob <rawatson@...> wrote: bcrijns wrote:> So life after the operation will be beter?> I cant help but often think the opposite... not really but a little. > The reason is that now my daughters eye's are so smallYou mean her eye openings are small (blepharophimosis) not her eyes themselves (microphthalmia), right?I don't understand why you don't think the bleph/ptosis/epicanthus-inversus surgery will make things worse or not help? They might not directly help the strabismus or nystagmus, true, but they'll make the other things better in so many other ways (and indirectly they'll make the strabismus correction 'squint' operations easier).> you can > hardly see the nystagmus or strabismus (wobbly eyes and slight > crosseyed sight she has) The wobbly eyes are there to stay. Is there > anyone out there that has

both or one of these eyedisorders? Would > love to talk to someone. Thanks. BerniceI have strabismus but not nystagmus (my eyes 'tremble' but don't 'wobble'). I have had several 'squint' operations to straighten one eye or the other but they still aren't quite straight or coordinated. I look with one eye at a time and swap between the two. The inactive eye drifts inwards until I use it again, at which point it snaps to the centre again and the other eye then drifts inwards. Probably disconcerting to people who are talking to me, I expect!? I therefore have poor binocular vision, and experience no thrill at all at 3-D movies. Forget about those red/green shifted photographs with the celophane lenses too - and those new pictures with 3-D images among the abstract dot patterns thingies. If I try to look with both eyes at once, I get disoriented and walk crookedly (not a good idea during a sobriety test, I expect). Must

remember to give both eyes a turn when reading or driving, lest the less-favoured one might get lazy(-er) and tired.> PS We saw the opht. this month. Nina has to patch up 4 hours a day > so her smaller left eye will function better. And the effect is > unbelievable!! We now even have pictures of Nina on which both > eyeopenings look the same instead of one smaller!When I was little, I too had to wear a patch to even the eyes up. A relatively short term thing? I also did occular therapy, some of which involved looking into a binoccular scope thingy, with different but related scenes for each eye such as Mickey Mouse for one eye and a cage for the other. I then moved Mickey into the cage and followed him there with my eye. Perhaps to encourage binocular vision? Didn't work for me, though, d'oh!. I also vaguely recall having to hold a big letter 'E' at various angles, to match what the occular therapist was

doing with her big letter 'E'. Not quite sure what the point of that exercise was, but I can still recognise a letter 'E' anywhere.There are lots of handy links to information for these and other favourite eye disorders here:http://directory.google.com/Top/Health/Conditions_and_Diseases/Eye_Disorders/There's probably a page or two of links too.Rob

January 1, 2004

> Hello I too have strabismus. Also other eye disorders. I am 48 and

> diagnosed 2 years ago with (sp?) Keratanomis

I tried to look that up in my medical dictionary, but it had 7 columns

(3.5 pages!) of kerat- words to choose from, unfortunately not many of

them much like 'keratanomis'. :-( Some of the likely-looking ones were

actually to do with horny tissue (i.e. skin, fingernails, hair, etc)

rather than corneas, as the kerat[o]- prefix can relate to both the

cornea and horny tissue. Can you find the proper spelling for me?

> and Acute

> Conjungtivitis. I may or may not go blind from this.

Medically, 'acute' means temporary, as opposed to 'chronic' which means

systemic or long-term. But 'acute' is often (wrongly, according to

purists) used to mean 'severe'. Is that what you meant?

> Please What

> diagnosis of BPES do you have?

Who - me? When I asked my surgeon, he wrote it down for me:

" blepharophimosis, telecanthus, epicanthus inversus, with ptosis " . I

also have a few other non-BPEI eye-related issues such as strabismus,

mild myopia, etc. Whether it's Type I or II, I know not.

> I have FOREVER been told that my

> vision dysfunctions and eye disease HAD NOTHING to do with

> Blepharophimosis type1. Any comments? I appreciate any and all

> comments.

The complete BPEI syndrome, according to Elliot & Wallace (1986),

consists of 10 characteristics, none of which are strabismus, nystagmus,

myopia, keratowhateveritis or acute anything. My take on it is that if

one's genes that build that part of the body are stuffed, one can

reasonably expect other ophthalmic abnormalities to occur as well. Their

occurrence is not consistent, so I guess that's why they're not

considered as 'core' characteristics.

In Oley & Baraitser's paper (1988), they say: " Occasional ocular

findings include microphthalmos, anophthalmos, microcornea,

hypermetropia, divergent strabismus, nystagmus, amblyopia, and

trichiasis. " Bingo! They (and others) also list a swag of other things

(both ophthalmic and non-) that occur occasionally but not consistently

along with BPEI. Whether these other things are or aren't part of BPEI,

or whether they're all perhaps part of a broader syndrome, is debatable

I guess. Even many of the 10 'core' characteristics don't always occur

(e.g. my father and son had/have almost none, whereas I have almost the

full set plus extras. D'oh!).

Case in point: both my son and I have been diagnosed with BPEI. However,

we have almost no symptoms in common (except trichiasis, which was a

problem for him but not for me so even that was different)! My son was

also born with a congenital hiatus hernia, which we've subsequently

learned can (very rarely) occur with BPEI-enhanced folks.

One difficulty is that BPEI is rare and widely distributed so that

research is difficult and getting statistically significant case data

must be a nightmare. " They " still don't know a great deal about it.

Enough of my random and prolix blathering! Away with me!

Rob

January 1, 2004

Hello Rob

You were by no means blathering on. Prepare for some blatherskite tho (haha)

I thank you for responding with so much wonderhul data. Medical terminology is extremly difficult for me.......but I am pressing forward and gaining in knowledge.

To clarify and correct my errors=.(a) can you find the proper spelling for me? Yes I can! The proper spelling is Keratoconus. I am understanding this is a disease of the cornea.

I am a poor candidate for transplants due to Chronic Allergic Conjunctivitis and the fact my eyes dont shut properly and I have an incomplete blink etc.....I had silicon eye shunts placed in the upper eye tear ducts in an in office procedure in Portland Oregon at the Casy Eye Institute on October 4 2002. By DR RODGER DALY. This was to dam up my eyes so they would be more moist. It has helped a bit.

DR.DALY stated I am a poor candidate and hes not sure if I have Keratconus but concures with DR JEEHEE KIM in Seattle and DR RICHARD HOPPS in Yakima.......because he studied with DR JEEHEE and knows HOPP. He states I should be OBSERVED and a transplant not preformed.

From Seattle University from another surgeon DR.JEEHEE KIM stating she thought a transpalnt was possible on my right eye ( which is worse than left eye).....but states the eye would be sewn shut for a year and the transplant may or may not work.

All in all its confusing. I am making an appoinment this month to see Opthomoligist HOPPS. At that time I will ask him EXACTLY to the best of his knowledge which of these 10 core characterisitis I have I know one is AMBLYOPIA and if BPEI TYPE 1 the absolute diagnosis. If not what is? See I am not positive. I could not have asked so presice questions with out the aid of you and such other wonderful caring people withen this support room. THANK YOU.

I also have some recent documents from a genetics clinic where I was interviewed and documented. Thats another topic tho.I also have an original letter from one of my surgeons I had as a child. In this old letter he states TYPE 1. I wrote him in regards to having kids back in the early 1980s.

Its time to get all these documents in order and get a final statement of opinion. You may be interested to know I was asked at the genetics clinic to get blood work done for hormone resesrch this was to be a referal from the clinic to another clinic.I wont go into as why I declined but I did. But I will state Insurance also played a partial role.

Yes I agree the rareity of BEPS disallows a pool of common factors other that the 10 core characturistics and some others you informed me of so clearly. I hope someone continues to crunches the data on US from documetation and observes OUR common additions,,,,,,,if any? For future generations if not ours........

Myopicly Yours ............

Rob <rawatson@...> wrote: > Hello I too have strabismus. Also other eye disorders. I am 48 and> diagnosed 2 years ago with (sp?) KeratanomisI tried to look that up in my medical dictionary, but it had 7 columns (3.5 pages!) of kerat- words to choose from, unfortunately not many of them much like 'keratanomis'. :-( Some of the likely-looking ones were actually to do with horny tissue (i.e. skin, fingernails, hair, etc) rather than corneas, as the kerat[o]- prefix can relate to both the cornea and horny tissue. Can you find the proper spelling for me?> and Acute> Conjungtivitis. I may or may not go blind from this.Medically, 'acute' means temporary, as opposed to 'chronic' which means systemic or long-term. But 'acute' is often (wrongly, according to purists) used to mean 'severe'. Is that what you meant?> Please

What> diagnosis of BPES do you have?Who - me? When I asked my surgeon, he wrote it down for me: "blepharophimosis, telecanthus, epicanthus inversus, with ptosis". I also have a few other non-BPEI eye-related issues such as strabismus, mild myopia, etc. Whether it's Type I or II, I know not.> I have FOREVER been told that my> vision dysfunctions and eye disease HAD NOTHING to do with> Blepharophimosis type1. Any comments? I appreciate any and all> comments.The complete BPEI syndrome, according to Elliot & Wallace (1986), consists of 10 characteristics, none of which are strabismus, nystagmus, myopia, keratowhateveritis or acute anything. My take on it is that if one's genes that build that part of the body are stuffed, one can reasonably expect other ophthalmic abnormalities to occur as well. Their occurrence is not consistent, so I guess that's why they're not considered as 'core'

characteristics.In Oley & Baraitser's paper (1988), they say: "Occasional ocular findings include microphthalmos, anophthalmos, microcornea, hypermetropia, divergent strabismus, nystagmus, amblyopia, and trichiasis." Bingo! They (and others) also list a swag of other things (both ophthalmic and non-) that occur occasionally but not consistently along with BPEI. Whether these other things are or aren't part of BPEI, or whether they're all perhaps part of a broader syndrome, is debatable I guess. Even many of the 10 'core' characteristics don't always occur (e.g. my father and son had/have almost none, whereas I have almost the full set plus extras. D'oh!).Case in point: both my son and I have been diagnosed with BPEI. However, we have almost no symptoms in common (except trichiasis, which was a problem for him but not for me so even that was different)! My son was also born with a congenital hiatus hernia, which

we've subsequently learned can (very rarely) occur with BPEI-enhanced folks.One difficulty is that BPEI is rare and widely distributed so that research is difficult and getting statistically significant case data must be a nightmare. "They" still don't know a great deal about it.Enough of my random and prolix blathering! Away with me!Rob

January 2, 2004

> You were by no means blathering on. Prepare for some blatherskite tho

> (haha)

>

> I thank you for responding with so much wonderhul data. Medical

> terminology is extremly difficult for me.......but I am pressing

> forward and gaining in knowledge.

It's like another planet, isn't it? I wish I'd gone to a school that

taught Latin or ancient Greek, so I could make sense of what the medical

boffins are on about!

> To clarify and correct my errors=.(a) can you find the proper

> spelling for me? Yes I can! The proper spelling is Keratoconus. I am

> understanding this is a disease of the cornea.

Ah! Thanks, now THAT's in my dictionary. And I can do a Google search,

revealing all sorts of goodies. Check out http://www.kcenter.org/ and

http://www.nkcf.org/ for example (maybe you have already?).

> I am a poor candidate for transplants due to Chronic Allergic

> Conjunctivitis and the fact my eyes dont shut properly and I have an

> incomplete blink etc.....I had silicon eye shunts placed in the upper

> eye tear ducts in an in office procedure in Portland Oregon at the

> Casy Eye Institute on October 4 2002. By DR RODGER DALY. This was to

> dam up my eyes so they would be more moist. It has helped a bit.

Do " they " know what the allergic reaction is caused by? (I.e. what are

your conjunctiva allergic to?)

Incomplete closing is sometimes associated with (over-enthusiastic?)

ptosis repair, too. I've had my lower tear ducts fiddled with (no

shunts, luckily) but not the uppers. Eye dryness is common with BPEI

folks, although I've had the opposite problem: watery eyes.

> DR.DALY stated I am a poor candidate and hes not sure if I have

> Keratconus but concures with DR JEEHEE KIM in Seattle and DR RICHARD

> HOPPS in Yakima.......because he studied with DR JEEHEE and knows

> HOPP. He states I should be OBSERVED and a transplant not preformed.

He's not sure? Hmmmm... I'd be finding out definitively. I wonder what

he thinks observation will do? (e.g. watch for how long? and then what?)

> From Seattle University from another surgeon DR.JEEHEE KIM stating

> she thought a transpalnt was possible on my right eye ( which is

> worse than left eye).....but states the eye would be sewn shut for a

> year and the transplant may or may not work.

Judging by what the keratoconus web sites say (but what would they know?

more than me at least) that seems somewhat extreme. They quote a 90-95%

success rate with corneal transplants, although I suppose your chronic

allergic situation might disturb that prognosis somewhat?

> All in all its confusing. I am making an appoinment this month to see

> Opthomoligist HOPPS. At that time I will ask him EXACTLY to the best

> of his knowledge which of these 10 core characterisitis I have I

> know one is AMBLYOPIA and if BPEI TYPE 1 the absolute diagnosis.

Confusing ain't the half of it! I hope Hopps is more optimistic than the

other two.

Erm... amblyopia is not one of the 10 core characteristics of BPEI,

according to Elliot & Wallace (although their paper is somewhat

derivative). Their list is (hang on to your hat):

1. Blepharophimosis and telecanthus [well, derrr...]

2. Lengthening of the horizontal parts of the canaliculi, with lateral

displacement of the lacrimal puncta [i.e. misplaced tear ducts]

3. Hypoplasia of the caruncle and semilunar fold [underdevelopment of

the fleshy bit at the corner of one's eye, and also of whatever the heck

the semilunar fold is!]

4. Drooping of the lateral canthus and the lateral end of the lower

lid... [makes sense, I guess]

5. Epicanthus inversus [we all know what THIS is!]

6. Ptosis [and this!]

7. Stiff, thick, smooth & taut upper eyelids, with poor surgical

cleavage thereof [and, I add as an amateur, same goes for the lower lid

re surgical cleavage]

8. Hypoplasia of the external oculomotor muscles [which might be the

cause of common strabismus among BPEIstanis? And why my eyes get so

tired reading & driving?]

9. Flat Nasal bridge and supraorbital ridges [ah, so that's why my

glasses keep slipping down...]

10. Flat, expressionless face with stiff skin [them's fightin' words,

but handy for playing poker]

I don't worry too much about Type I vs Type II. The differences are not

that important for day-to-day life for some of us.

> Its time to get all these documents in order and get a final

> statement of opinion. You may be interested to know I was asked at

> the genetics clinic to get blood work done for hormone resesrch this

> was to be a referal from the clinic to another clinic.I wont go into

> as why I declined but I did. But I will state Insurance also played a

> partial role.

Shopping around for decent doctors is never easy. I look for docs who

have written papers and have specific experience with the ailment, even

if that means going interstate or international. It's just too important

to put up with the local hackers, sometimes. I'm not in a position to

judge or cast aspersions on the quality of American medical specialists.

And insurance is one topic I stay well clear of, since our (Oz) health

insurance system is WAY different from the USA's, although it's trending

in a similar direction, which is a BIG worry.

Hang in there!

Rob

January 13, 2004

My daughter Alyssa now 13 months, born with BPES, also has Duane's Syndrome, another rare condition. To do with the muscles and nerves attached to the eye itself. We have been told that the error in her DNA most likely happened at the same time causing so may problems with her eyes. She is starting surgeries soon for BPES, she has 2 different surgeons. One for the 'cosmetic' and one for the Duane's.

Hello to all and Happy New Year! We've been away on Holiday and it has been very interesting reading the 100 + emails on our return. Welcome to all the 'newcomers' to the group.

Re: blepharophimosis Nystagmus/Strabismus