RE: Poll Results and Analysis

[Guest guest]

Hi

When you read these stats, you should certainly consider that BPES has its characteristics, which are:

Disease characteristics. Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have normal intelligence.

there are other disorder which are realted:

Genetically Related Disorders

Deletion of 3q23

Individuals with BPES caused by cytogenetic rearrangements involving 3q23 (i.e., translocations and interstitial deletions) have been reported [Fukushima et al 1991 , Jewett et al 1993 , Boccone et al 1994 , Lawson et al 1995 , Praphanphoj et al 2000 , Engelen et al 2002].

(Micro)deletion of region 3q23 may be associated with psychomotor retardation, microcephaly, cardiac defects, syndactyly, and joint contractures [De Baere et al 2003].

Nonsyndromic premature ovarian failure (POF). FOXL2 mutations have been suggested as playing a role in nonsyndromic POF [Crisponi et al 2001 , Prueitt & Zinn 2001]. Several FOXL2 polymorphisms [Crisponi et al 2002 , De Baere et al 2002 , et al 2002 , Bodega et al 2004] and variations with presumably pathogenic effect in individuals affected with isolated POF have been reported [ et al 2002].

There are many other syndromes which share some similar characteristics with BPES.

See: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

Look at the section called

Differential Diagnosis

The bottom line is: it is very very interesting to see what the stats that Micah has produced and analysed. But I think it would be very unwise for a parent or person with BPES to think that there is a liklihood that some of those symptoms may apply to them.

I suspect that some of the members of this group may have one of the other syndromes listed in "Differential Diagnosis".

Thank you Micah for doing the analysis.

Shireen

-----Original Message-----From: Micah Truman [mailto:micah_truman@...]Sent: 24 November 2004 03:01blepharophimosis Subject: blepharophimosis Poll Results and Analysis

Hi All,

Here are the preliminary results from the poll. The survey will end at the end of the month, but I think there will not be too many more respondents. Below is the raw data, with a quick analysis. The percentages depict the total proportion of BPES carriers who participated in the survey, who possess a given trait.

Condition

# of Respondents

Percentage

Ptosis (drooping eyelids)

27

100%

Near/farsightedness

19

70%

Underdeveloped bridge of nose

17

63%

Tear duct problems

13

48%

Amblyopia (lazy eye)

10

37%

Other

9

33%

Ear malformation

8

30%

Developmental delay

6

22%

Eczema

5

19%

ADD (Attention Deficit Disorder)

4

15%

Mental retardation

4

15%

Facial deformity

3

11%

Underdeveloped musculature

3

11%

Sensory impairment

2

7%

Microcephaly (head is smaller than average)

1

4%

1) I am assuming that all people surveyed had ptosis, as (I believe) this is the primary defining trait of BPES. This means 27 people to date have taken the survey.

2) 70% surveyed have issues with vision. This is somewhat higher than the average of 61% listed for people in the U.S. who buy corrective lenses (http://www.allaboutvision.com/resources/statistics-eyewear.htm).

3) 63% of respondents said that they have an undeveloped nose bridge. I would be curious to know how many of these people needed surgery to correct this. My doctor told me that both my daughter and I have this problem, but that it does not require surgery, nor is it noticeable. Not sure if this is the same for others in the group.

4) 48% have tear duct issues. Again, this an issue I have heard about quite a bit, and it looks like a number of us have this.

5) There a number of issues that are also quite common – between the 22% - 37% range. Amblyopia, ear malformation, and developmental delay. This to some degree answers some of the earlier questions asked by members about developmental delay, and ear malformation. These all look quite common, unfortunately.

6) At the 10 - 20% level, there are also a number of fairly prevalent issues (eczema, ADD, mental retardation, and underdeveloped musculature.) All of these were news to me – I didn’t know that these were as significant as they were.

7) Unfortunately, the ‘Other’ category is not overly helpful, as we were not able to list out what exactly these other issues were. Maybe we can take this on if we ever do a more in depth survey.

The biggest problem with this survey at this point is sample size. Ideally, it would be best to have at least 300 people take the survey, which would allow an accuracy rate of about +/-5%. That would be quite difficult to do, of course, given the number of people in our group.

Anyway, I hope that this is of help for those of us trying to understand how common the various issues we all have are, in addition to ptosis.

Best, Micah

[Guest guest]

Andy’s point is very well taken, and

my apologies for being unclear.

In the initial email exchange in talking

about developmental delay, I wrote that I felt many of these characteristics

lay outside of BPES, as traditionally defined.

The survey was designed to simply

understand the range of conditions that BPES carriers in the group exhibited,

in addition to ptosis. This was not

an attempt to label all of these characteristics as endemic to BPES, nor to indicate that these all came part and parcel with the

condition.

My apologies for any

confusion.

Micah