Blepharophimosis and ptosis

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My son has only one eye with ptosis (3

months old) – he is waiting for surgery until he is 3 or 4, as patching

has been successful in getting him to lift his chin to see out of that eye for

now.. What is interesting is that he also has a slightly tied tongue (so when

he sticks it out, it looks like a heart), and what looks like one side of his

face is slightly weaker than the other (you can only tell by looking closely,

but when he sticks his tongue out, it usually goes to the weaker side, and it

is the same side as the ptosis).

He is otherwise perfectly normal, healthy,

developing exactly as his older brother did (who has no ptosis). So –

anyone heard of those as symptoms? One side only and all? Also,

that it seems to be related to one side of his face being slightly weaker?

Kari in Canada

From:

blepharophimosis [mailto:blepharophimosis ] On Behalf Of Lucy Chidgey

Sent: May 17, 2006 1:20 PM

To:

blepharophimosis

Subject: Re: blepharophimosis

Blepharophimosis and ptosis

Hi

My name is Lucy and my husband Garry and I have a 15 month old daughter

called Holly. We were in exactly the same position as your sister-in-law

and brother when Holly was first born. I kept saying 'she won't open her

eyes' and it was a big mystery because no-one knew why, even the local doctors.

Holly wasn't diagnosed until she was at least 4 months old so you were lucky to

have a quick diagnosis.

Holly is the first in the family which is why it was such a big

shock. It is a rare genetic disorder which is just a spontaneous mutation

and is of no fault to anyone, just one of those things. In plain english

the BPES means that they have smaller eye openings (Blepharophimosis), no muscle

in the eyelids (Ptosis) and excess skin up the inside corners of the eyes

(Epicanthus Inversus) Syndrome. It took us a long while to get our heads

around but this website and e-mail has helped us a lot.

There are pictures of Holly on the website which you can look at.

We are off to Moorfields Eye Hospital in London on Monday for Hollys first

surgery to have a temporary lift on the eyelids.

If you would like to ask me anymore questions please fire away, I know

exactly how you are all feeling but please believe me that it does get

easier. We wouldn't change Holly for the world, her personality and great

smile lights up her face.

Take care

Lucy (Hampshire, UK)

suecox1420

<suecox1420@...> wrote:

My nephew, who is 5 weeks

old was just diagnosed with

blepharophimosis, ptosis and nanophthalmos. My sister in law and

brother were both concerened as well as the pediatrician because he

didnt seem to be opening his eyes enough so they went to a specialist

and thats what they were told. The dr. does want to see him back in

two months to re-evaluate him but in the meantime both parents are a

wreck over this and are really trying to find out what this actually

means. Can anybody help me. They asked me to look stuff up on the

internet about it but there's so much to read and I thought it might

be better to hear some feedback from someone who has actually gone

through this. Anything will help. Thanks.

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