Causes of coloboma

by Curioser 03.12.13 12:30

This taken from http://http://www.patient.co.uk/doctor/Coloboma.htm:

There may be genetic and/or environmental factors involved in causation. Genetic factors are clearly involved in some cases, where there is a Mendelian pattern of inheritance or a chromosomal abnormality. In other cases, the inheritance pattern is less clear, but genetic factors are likely. There are recognised gene mutations involved in the heritable forms of coloboma, microphthalmia and anophthalmia.³

Where the coloboma is inherited, there may be variation in severity between individuals, probably due to incomplete penetrance and variable expressivity of the gene.²

Environmental factors are also possible causes, and these include:

Alcohol (in fetal alcohol syndrome).³

Vitamin A deficiency.

Teratogenic drugs - thalidomide, possibly mycophenolate mofetil.⁵

Infections (toxoplasmosis, cytomegalovirus).

Various other possible environmental factors - detailed by Chang et al.⁶
Associated conditions

There is a spectrum of disease involving malformation of the eye, known as the microphthalmia-anophthalmia-coloboma spectrum. Coloboma can be associated with microphthalmia and with optic cysts, which are part of this spectrum.¹ ³

Many syndromes involving multisystem malformations include coloboma, for example:

CHARGE syndrome - Coloboma, Heart anomaly, choanal (nasal) Atresia, mental Retardation, Genital and Ear abnormalities.⁷

Epidermal naevus syndrome.

Cat eye syndrome.

Velo-cardiofacial syndrome.

DiGeorge's syndrome.

Kabuki syndrome.⁸

Coloboma in association with renal anomalies.¹ ⁶
An extensive list of syndromes and genetic conditions associated with coloboma can be found in the review by Chang et al.⁶

Interesting no?

by ultimaThule 03.12.13 16:10

And your point is?

Btw, the link you've given doesn't work for me.

by Guest 03.12.13 16:17

ultimaThule wrote:And your point is?

Btw, the link you've given doesn't work for me.

***
Too much http-stuff ... Try this: [You must be registered and logged in to see this link.]

by lj 03.12.13 16:51

The only thing interesting in the coloboma is that 2 "doctors" (or more if you count the docile "friends" circle) first claim it's there, really pushing it, then later deny it.

by ultimaThule 03.12.13 17:10

Now that is interesting, lj, as nowhere in any explanation for coloboma I've read has it said or implied that observation of this particular retinal deformity has shown it to have the ability to disappear and reappear, or to change size, shape, and location, of its own accord.

by Liz Eagles 03.12.13 17:25

I know someone with this eye defect. It's hardly noticeable. The person I know with this eye defect was born normally (non IVF) and is one of the most intelligent people I've ever encountered. He had no childhood illnesses. He had nothing weird apart from a fleck in his eye that really you had to look at very hard to notice (I found it quite lovely but I also like people with less than perfect teeth).

The fact is the McCanns made a big deal out of this, launched a huge campaign and then retracted their view of the coloboma.

I see nothing else than a pile of PR scheisters making a huge thing out of nothing and jeopardising the search for Madeleine.

Ask the McCanns to give their opinion on the fact they sanctioned this parp and then withdrew from it like a snake crawling back to its stone. Gerald McCann told us he is in control.

So Gerry and Kate, why did you allow this to happen? You were told by the police it was the wrong thing to do.

We always get back to basics and for me there is no way that any of this rings true.

Just my opinion of course.

by Guest 03.12.13 18:06

lj wrote:The only thing interesting in the coloboma is that 2 "doctors" (or more if you count the docile "friends" circle) first claim it's there, really pushing it, then later deny it.

[You must be registered and logged in to see this image.]

by Woofer 03.12.13 18:19

Thanks for the link Curioser - some interesting points, that`s if Maddie actually had a coloboma. Flecks in the iris are not uncommon, in fact an iridologist can determine where weaknesses in the body may occur from where the flecks are. I believe the 7 o`clock position indicates weakness or problems in the genitals/ kidney area.

[You must be registered and logged in to see this link.]

And to Aquila - I agree about imperfect teeth or any other imperfections - to me they are attractive.

by chillyheat 03.12.13 18:26

Woofer wrote:Thanks for the link Curioser - some interesting points, that`s if Maddie actually had a coloboma. Flecks in the iris are not uncommon, in fact an iridologist can determine where weaknesses in the body may occur from where the flecks are. I believe the 7 o`clock position indicates weakness or problems in the genitals/ kidney area.

[You must be registered and logged in to see this link.]

And to Aquila - I agree about imperfect teeth or any other imperfections - to me they are attractive.

[You must be registered and logged in to see this link.]

by Curious_Bystander 03.12.13 18:38

Woofer wrote:Thanks for the link Curioser - some interesting points, that`s if Maddie actually had a coloboma. Flecks in the iris are not uncommon, in fact an iridologist can determine where weaknesses in the body may occur from where the flecks are. I believe the 7 o`clock position indicates weakness or problems in the genitals/ kidney area.

[You must be registered and logged in to see this link.]

And to Aquila - I agree about imperfect teeth or any other imperfections - to me they are attractive.

I would urge people to be careful with 'sciences' such as these. It appears that iridology has something of a checkered reputation:

[You must be registered and logged in to see this link.]

I don't post much, but if we are correct in our suspicions and wish to prove them to be so, we must ensure that our methodology is flawless.

by Curious_Bystander 03.12.13 18:41

As an aside... The first thing I thought of, when I read Woofer's take on it, was 'that' page in 'that' book.

by Guest 03.12.13 18:54

Curious_Bystander wrote:As an aside... The first thing I thought of, when I read Woofer's take on it, was 'that' page in 'that' book.

***
Me too. To start with the question why a mother reportedly [her words] was writing the bewk for Madeleine and the twins would make such a reference AND call them "perfect" ...

by Curious_Bystander 03.12.13 19:02

Châtelaine wrote:
Curious_Bystander wrote:As an aside... The first thing I thought of, when I read Woofer's take on it, was 'that' page in 'that' book.
***
Me too. To start with the question why a mother reportedly [her words] was writing the bewk for Madeleine and the twins would make such a reference AND call them "perfect" ...

*shudder*

by whodunit 06.02.16 0:01

lj wrote:The only thing interesting in the coloboma is that 2 "doctors" (or more if you count the docile "friends" circle) first claim it's there, really pushing it, then later deny it.

Perhaps for a few reasons they felt they should underplay it's existence...

"Risk factors for the coloboma include consanguineous parents ..."

[You must be registered and logged in to see this link.]
Janet V. Engels

by Nina 06.02.16 11:16

whodunit wrote:
lj wrote:The only thing interesting in the coloboma is that 2 "doctors" (or more if you count the docile "friends" circle) first claim it's there, really pushing it, then later deny it.

Perhaps for a few reasons they felt they should underplay it's existence...

"Risk factors for the coloboma include consanguineous parents ..."

[You must be registered and logged in to see this link.]
Janet V. Engels

They aren't related though,or are they?

by whodunit 06.02.16 17:47

@[You must be registered and logged in to see this link.]--"They aren't related though,or are they?"

That is the question. Perhaps there were other congenital problems with Maddie and that is why TM refused to release her medical records.

by comperedna 07.02.16 12:41

Iridology has a chequered reputation? Ha ha. Its total BS! Nonsense... total tosh. Reading tealeaves is about as scientific or justifiable. There are quite a few quack ideas like that about.

by Casey5 07.02.16 20:51

Bearing in mind the McCanns have never said Madeleine had a coloboma, not in interviews and not in print.

by Verdi 07.02.16 23:05

Casey5 wrote:Bearing in mind the McCanns have never said Madeleine had a coloboma, not in interviews and not in print.

[You must be registered and logged in to see this image.]

Actions speak LQWDER than words.

by Verdi 08.02.16 20:42

Typical coloboma illustrated in medical dictionary..

[You must be registered and logged in to see this image.]

by Miraflores 08.02.16 21:08

Casey5 wrote:Bearing in mind the McCanns have never said Madeleine had a coloboma, not in interviews and not in print.

Kate McCann did in an early interview. This seems to have been long since whooshed, because I haven't been able to find it again.

by lj 08.02.16 23:59

Miraflores wrote:
Casey5 wrote:Bearing in mind the McCanns have never said Madeleine had a coloboma, not in interviews and not in print.
Kate McCann did in an early interview. This seems to have been long since whooshed, because I haven't been able to find it again.

That's what I remember too.