Guest guest Posted October 30, 2007 Report Share Posted October 30, 2007 > > Hi there. My son of 8 months was recently diagnosed with BPES. The > question i have is can it only affect one eye? We have seem numerous > opthamologists and recently went to a neurologist who was the only one > to pick up that Calin has BPES. He hasn't had any blood tests or > anything to confirm this. > > His one eye is fine - no ptosis, but he has ptosis in the other eye. I > have posted some pics of him. has anyone else ever experianced this? > > Many thanks > > South Africa > Hi there, I have looked at Calin's photos. Has he definately got BPES as opposed to 'only' ptosis? BPES is a genetic syndrome with more than one symptom, inc. ptosis. I am NO expert ; my son is waiting for genetic blood tests to come back to confirm BPES but he has ptosis in each eye, wide spacing between his eyes and epicanthal folds. He does not, however, have a smaller than normal opening width wise of his eyes (from inner corner to outer corner). This is normal. If I were you I would def. request genetic testing to prove or disprove BPES as opposed to ptosis. BTW does anyone elses child have BPES with a normal eye opening width ways? I am still trying to gather information regarding this. Thanks Cretemum. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 30, 2007 Report Share Posted October 30, 2007 > > Hi there. My son of 8 months was recently diagnosed with BPES. The > question i have is can it only affect one eye? We have seem numerous > opthamologists and recently went to a neurologist who was the only one > to pick up that Calin has BPES. He hasn't had any blood tests or > anything to confirm this. > > His one eye is fine - no ptosis, but he has ptosis in the other eye. I > have posted some pics of him. has anyone else ever experianced this? > > Many thanks > > South Africa > Hi, Forgive me here if I'm repeating myself, but my first reply has disappeared! I have looked at Calins photos; are you sure he has BPES as opposed to 'just' ptosis. I am waiting for genetic test result to confirm BPES for my son, 14 months. In my research, BPES is a genetic syndrome with a number of symptoms, inc. ptosis, but also widely spaced eyes, epicanthal folds and smaller than average eye opening from inner to outer corner. My son has 3 of the 4 symptoms. Your son looks like he only has ptosis; I would def. request genetic testing to confirm/rule out BPES. Obviously I am NO expert, just a mum searching for information for my own child. BTW does anyone on this board know if it is common for someone with BPES to have less than all of the symptoms; I ask because my son has normal eye openings but does have ptosis, wide spacing and epicanthal folds. Thanks for any info. Cretemumx Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 30, 2007 Report Share Posted October 30, 2007 and Cretemumx: - I would agree that Calin's photos would suggest ptosis of one eye versus BPES but genetic testing would confirm that. I have not heard of a case of one eye presenting the ptosis. Calin does not have the smaller eye openings nor the epicanthus inversus associated with the syndrome (at least from my analysis of the photos). Regarding Cretemumx's comments.....our son (whom I will post photos for later today) presents differently than some. It seems, as many have stated before, every case is a little different. Chrisopher's ptosis is not as sever as some, he has smaller eye openings, epicanthus inversus, but his lower lids droop downward more severely than some. When he has his surgery later in November, Dr Katowitz at CHOP will address this. The only confirmation seems to be genetic testing; however, 's case presented enough of the characteristics that it has been confirmed by several specialists. We are waiting for genetic testing to become available here in the US (they predict that will be in the next few years) and if it does not become available we will consider genetic testing in Europe. I hope you are able to find some answers on Calin's ptosis. What a beautiful baby. Take care --Anne Weber--Chicago, IL, USA ps photos will be under , 9 mos --- cretemum <cretemum@...> wrote: > > > > > Hi there. My son of 8 months was recently > diagnosed with BPES. The > > question i have is can it only affect one eye? We > have seem > numerous > > opthamologists and recently went to a neurologist > who was the only > one > > to pick up that Calin has BPES. He hasn't had any > blood tests or > > anything to confirm this. > > > > His one eye is fine - no ptosis, but he has ptosis > in the other > eye. I > > have posted some pics of him. has anyone else ever > experianced this? > > > > Many thanks > > > > South Africa > > > Hi, > Forgive me here if I'm repeating myself, but my > first reply has > disappeared! > > I have looked at Calins photos; are you sure he has > BPES as opposed > to 'just' ptosis. > I am waiting for genetic test result to confirm BPES > for my son, 14 > months. In my research, BPES is a genetic syndrome > with a number of > symptoms, inc. ptosis, but also widely spaced eyes, > epicanthal folds > and smaller than average eye opening from inner to > outer corner. > My son has 3 of the 4 symptoms. Your son looks like > he only has > ptosis; I would def. request genetic testing to > confirm/rule out > BPES. > Obviously I am NO expert, just a mum searching for > information for my > own child. > BTW does anyone on this board know if it is common > for someone with > BPES to have less than all of the symptoms; I ask > because my son has > normal eye openings but does have ptosis, wide > spacing and epicanthal > folds. Thanks for any info. > Cretemumx > > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 30, 2007 Report Share Posted October 30, 2007 Hi Thank you for your question and for sharing photos of Calin. He is gorgeous. Kirsten was born in Durban, I am a fellow South African. Kirsten was diagnosed with BPES in SA and we moved to the UK when she was 14 months old. I agree with other mum's views, in my opinion Calin doesn't appear to have blepharophimosis. It isn't unusual to have ptosis in 1 eye. If you don't mind me asking, why did Calin see a neurologist? You did the right thing to see more than 1 ophthalmologist and to ask for more opinions. You will get a definite answer eventually. Best regards Parsons Colchester, UK > > Hi there. My son of 8 months was recently diagnosed with BPES. The > question i have is can it only affect one eye? We have seem numerous > opthamologists and recently went to a neurologist who was the only one > to pick up that Calin has BPES. He hasn't had any blood tests or > anything to confirm this. > > His one eye is fine - no ptosis, but he has ptosis in the other eye. I > have posted some pics of him. has anyone else ever experianced this? > > Many thanks > > South Africa > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2007 Report Share Posted October 31, 2007 Hi all It may be a good idea to take a look at this article: http://www.emedicine.com/ent/topic97.htm The focus of the article is surgery and it describes treatments. It is intended for people in the medical profession – so you may want to read it and ask your doctor to explain some of the things in it to you. Another useful site: http://www.patient.co.uk/showdoc/40000112/ Also worth looking at is this article: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html and scroll down to the section called: Table 2. Overview of Conditions in which Ptosis and/or Blepharophimosis are Prominent Features. You will see lots of very useful information – including a table of characteristics and the syndrome name. However, I strongly suggest that you seek expert medical advice and not to try and diagnose without their help. Reading and researching helps to prompt you to ask better questions – and with that in mind, I would recommend that you make a cup of coffee and sit down to about 30 minutes of reading. Syndrome Characteristics Hereditary congenital ptosis 1 (PTOS1) Ptosis Hereditary congenital ptosis 2 (PTOS2) Ptosis Ohdo blepharophimosis syndrome Blepharophimosis Blepharoptosis Mental retardation Congenital heart defects Hypoplastic teeth Michels syndrome Blepharophimosis Blepharoptosis Epicanthus inversus Ophthalmic anterior segment defects (cornea) Cleft lip/palate Minor skeletal abnormalities Ptosis with external ophthalmoplegia Ptosis Ophthalmoplegia Miosis Decreased accommodation Strabismus Amblyopia Noonan syndrome Ptosis Short stature Heart defects Blood clotting deficiencies Marden- syndrome Ptosis Blepharophimosis Growth retardation Neurologic defects (mental retardation, absent primitive reflexes) Schwartz-Jampel syndrome Intermittent ptosis Blepharophimosis Telecanthus Cataract Short stature Cartilage and skeletal anomalies Muscle hypertrophy Dubowitz syndrome Ptosis Blepharophimosis Lateral telecanthus Short stature Mental retardation Immunologic deficiencies -Lemli-Opitz syndrome Ptosis Epicanthus Cataract Growth and mental retardation Severe genitourinary, cardiac, and gastrointestinal anomalies I hope that this helps. Remember – there is no substitute for professional advice. Take care Shireen Mohandes London, England From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Anne Weber Sent: 30 October 2007 16:29 blepharophimosis Subject: Re: blepharophimosis Re: Ptosis in one eye and Cretemumx: - I would agree that Calin's photos would suggest ptosis of one eye versus BPES but genetic testing would confirm that. I have not heard of a case of one eye presenting the ptosis. Calin does not have the smaller eye openings nor the epicanthus inversus associated with the syndrome (at least from my analysis of the photos). Regarding Cretemumx's comments.....our son (whom I will post photos for later today) presents differently than some. It seems, as many have stated before, every case is a little different. Chrisopher's ptosis is not as sever as some, he has smaller eye openings, epicanthus inversus, but his lower lids droop downward more severely than some. When he has his surgery later in November, Dr Katowitz at CHOP will address this. The only confirmation seems to be genetic testing; however, 's case presented enough of the characteristics that it has been confirmed by several specialists. We are waiting for genetic testing to become available here in the US (they predict that will be in the next few years) and if it does not become available we will consider genetic testing in Europe. I hope you are able to find some answers on Calin's ptosis. What a beautiful baby. Take care --Anne Weber--Chicago, IL, USA ps photos will be under , 9 mos --- cretemum <cretemum@...> wrote: > > > > > Hi there. My son of 8 months was recently > diagnosed with BPES. The > > question i have is can it only affect one eye? We > have seem > numerous > > opthamologists and recently went to a neurologist > who was the only > one > > to pick up that Calin has BPES. He hasn't had any > blood tests or > > anything to confirm this. > > > > His one eye is fine - no ptosis, but he has ptosis > in the other > eye. I > > have posted some pics of him. has anyone else ever > experianced this? > > > > Many thanks > > > > South Africa > > > Hi, > Forgive me here if I'm repeating myself, but my > first reply has > disappeared! > > I have looked at Calins photos; are you sure he has > BPES as opposed > to 'just' ptosis. > I am waiting for genetic test result to confirm BPES > for my son, 14 > months. In my research, BPES is a genetic syndrome > with a number of > symptoms, inc. ptosis, but also widely spaced eyes, > epicanthal folds > and smaller than average eye opening from inner to > outer corner. > My son has 3 of the 4 symptoms. Your son looks like > he only has > ptosis; I would def. request genetic testing to > confirm/rule out > BPES. > Obviously I am NO expert, just a mum searching for > information for my > own child. > BTW does anyone on this board know if it is common > for someone with > BPES to have less than all of the symptoms; I ask > because my son has > normal eye openings but does have ptosis, wide > spacing and epicanthal > folds. Thanks for any info. > Cretemumx > > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2007 Report Share Posted October 31, 2007 > > > > > > Hi there. My son of 8 months was recently > > diagnosed with BPES. The > > > question i have is can it only affect one eye? We > > have seem > > numerous > > > opthamologists and recently went to a neurologist > > who was the only > > one > > > to pick up that Calin has BPES. He hasn't had any > > blood tests or > > > anything to confirm this. > > > > > > His one eye is fine - no ptosis, but he has ptosis > > in the other > > eye. I > > > have posted some pics of him. has anyone else ever > > experianced this? > > > > > > Many thanks > > > > > > South Africa > > > > > Hi, > > Forgive me here if I'm repeating myself, but my > > first reply has > > disappeared! > > > > I have looked at Calins photos; are you sure he has > > BPES as opposed > > to 'just' ptosis. > > I am waiting for genetic test result to confirm BPES > > for my son, 14 > > months. In my research, BPES is a genetic syndrome > > with a number of > > symptoms, inc. ptosis, but also widely spaced eyes, > > epicanthal folds > > and smaller than average eye opening from inner to > > outer corner. > > My son has 3 of the 4 symptoms. Your son looks like > > he only has > > ptosis; I would def. request genetic testing to > > confirm/rule out > > BPES. > > Obviously I am NO expert, just a mum searching for > > information for my > > own child. > > BTW does anyone on this board know if it is common > > for someone with > > BPES to have less than all of the symptoms; I ask > > because my son has > > normal eye openings but does have ptosis, wide > > spacing and epicanthal > > folds. Thanks for any info. > > Cretemumx > > > > > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 2, 2007 Report Share Posted November 2, 2007 >Yes, my daughter has BPES in her left eye while her right eye is normal, it looked like she had one whole eye and one half eye). She had surgery when she was 14 months old. My son had BLEP in both eyes and we opted not to have surgery because his vision was 20/20 and he had no problems with mucus and such. Their father has BLEP as does his father and 6 of his siblings (from a family of 12 children). My daughter is the only family member we know of with it in only one eye. > Hi there. My son of 8 months was recently diagnosed with BPES. The > question i have is can it only affect one eye? We have seem numerous > opthamologists and recently went to a neurologist who was the only one > to pick up that Calin has BPES. He hasn't had any blood tests or > anything to confirm this. > > His one eye is fine - no ptosis, but he has ptosis in the other eye. I > have posted some pics of him. has anyone else ever experianced this? > > Many thanks > > South Africa > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 2, 2007 Report Share Posted November 2, 2007 > > > > Hi there. My son of 8 months was recently diagnosed with BPES. The > > question i have is can it only affect one eye? We have seem > numerous > > opthamologists and recently went to a neurologist who was the only > one > > to pick up that Calin has BPES. He hasn't had any blood tests or > > anything to confirm this. > > > > His one eye is fine - no ptosis, but he has ptosis in the other > eye. I > > have posted some pics of him. has anyone else ever experianced this? > > > > Many thanks > > > > South Africa > > > Hi there, > I have looked at Calin's photos. Has he definately got BPES as > opposed to 'only' ptosis? > BPES is a genetic syndrome with more than one symptom, inc. ptosis. > I am NO expert ; my son is waiting for genetic blood tests to come > back to confirm BPES but he has ptosis in each eye, wide spacing > between his eyes and epicanthal folds. He does not, however, have a > smaller than normal opening width wise of his eyes (from inner corner > to outer corner). This is normal. > If I were you I would def. request genetic testing to prove or > disprove BPES as opposed to ptosis. > BTW does anyone elses child have BPES with a normal eye opening width > ways? I am still trying to gather information regarding this. > Thanks > Cretemum. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 4, 2007 Report Share Posted November 4, 2007 Hi “Cretemum” I am not a medically trained person, but I think that yes, it is possible to have just Blepharophimosis. There are at least 8 doctors who are members of this site – so please jump in and correct me if I am wrong. I can tell you that many of the resources on the internet are slightly out of touch with the most recent knowledge of BPES and related syndromes. If you can arrange for a test to be carried out by the lab in Belgium (or somewhere else) then you can be sure. I spoke to one of the doctors at Moorfields Eye Hospital in London, and they said that they can diagnose BPES very easily, and it can be done by looking at good quality close up photograph. The other thing to consider that in some people BPES is so mild that it goes undiagnosed. I have met a lovely yound girl who has not had any surgery at all and she looks great. She got it from her dad (so to speak). You may be interested to know that one of the actors in the movie “The Queen” has BPES. One of his sons has it too. I contacted him by email and made sure that he was happy for me to pass this information on. Where abouts do you live? I live in London, England. I am 46 years old, and the only person in my family with BPES. I was diagnosed at birth, had 3 surgeries (details not being relevant as things have advanced so much). Better go now – have guests coming round in 4 hours and the house is a mess J Take care Shireen Mohandes London, England __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 7, 2007 Report Share Posted November 7, 2007 > > > > > > Hi there. My son of 8 months was recently diagnosed with BPES. > The > > > question i have is can it only affect one eye? We have seem > > numerous > > > opthamologists and recently went to a neurologist who was the > only > > one > > > to pick up that Calin has BPES. He hasn't had any blood tests or > > > anything to confirm this. > > > > > > His one eye is fine - no ptosis, but he has ptosis in the other > > eye. I > > > have posted some pics of him. has anyone else ever experianced > this? > > > > > > Many thanks > > > > > > South Africa > > > > > Hi there, > > I have looked at Calin's photos. Has he definately got BPES as > > opposed to 'only' ptosis? > > BPES is a genetic syndrome with more than one symptom, inc. ptosis. > > I am NO expert ; my son is waiting for genetic blood tests to come > > back to confirm BPES but he has ptosis in each eye, wide spacing > > between his eyes and epicanthal folds. He does not, however, have > a > > smaller than normal opening width wise of his eyes (from inner > corner > > to outer corner). This is normal. > > If I were you I would def. request genetic testing to prove or > > disprove BPES as opposed to ptosis. > > BTW does anyone elses child have BPES with a normal eye opening > width > > ways? I am still trying to gather information regarding this. > > Thanks > > Cretemum. > > > Hi from Cretemum Thanks to Patsy Kaye and Shireen (and any I have missed) for your replies. It is very helpful to hear of your daughter having only 3 of the four main symptoms of BPES. Every thing I read about BPES outlines the four symptoms. Dom definately has normal length eye openings (widthways) but I cannot find much info about this or even find any pictures of children like this, although some of the children on this group seem to have larger eye openings than others, so maybe Dom is just one of these? Still waiting for genetic results but the docs have said that they might come back inconclusive, in which case we have to go for further more specific genetic testing. Obviously I do not wish to stop with just a clinical dx. because of hereditary links. What sort of age have other children had their ops? Dom's epicanthal folds do not look so bad (to me or my family). The ptosis is the problem really although he can see ok. as far as we know. We have another eye exam on the 16th though. Thanks again for all your support. Take care all. Cretemum. Quote Link to comment Share on other sites More sharing options...
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