Peters Anomaly

We have been waiting for the final results from Cordelia's autopsy to come in. The eye tissue was particularly delicate and involved a lot of work and after nearly 9 months we have some answers....and new questions.

They found something called Peters Anomaly in both of her eyes.

Que my friend Google.

                                          Peters Anomaly

Background and History

This form of eye malformation is named for Albert Peters, a German ophthalmologist who first described it nearly 100 years ago.  It usually occurs in only one eye.  More recently, we have learnt that when it occurs in both eyes this condition may be associated with other syndromes.

Clinical Correlations

The eye condition known as Peters anomaly consists of incomplete formation of the front part of the eye.  In particular, the iris (the coloured part of the eye) may be attached to the cornea (the clear part, or windshield of the eye) and this often leads to swelling of the cornea causing it to look cloudy and, of course, interfering with vision.  There is considerable variation in the amount of eye damage.  In some patients cutting the iris adhesion's may be enough to allow some clearing of the corneal clouding.  Sometimes the lens of the eye is attached as well and this can cause a cataract.
In many cases, the underlying defects lead to glaucoma which is the most serious threat to vision and is often difficult to treat.

Genetics

Isolated Peters anomaly usually occurs in an autosomal recessive pattern but autosomal dominant patterns have been reported as will.  The recessive disorder may be caused by a mutation in several genes.  The condition is likely the result of a disruption in some common metabolic pathway or pathways.


The condition appears to be quite rare and is associated with a condition called Peters Plus Syndrome.

We knew Cordelia was blind in one eye but we all thought the other eye was healthy because unlike the damaged eye, all the 'pieces' were there. So this has come as a bit of a shock to me. It makes me sad because she did open her eyes several times and I thought that meant she saw my face but maybe now she never did. Maybe she only saw darkness? or blurriness.

We are going to meet with the geneticist who we met with while I was pregnant to discuss these findings and how they fit in with her other conditions. So now we are just waiting for the geneticist to contact us. I feel on tender hooks. I hope he contacts us soon.What will he tell us? What answers will we get. Are we carriers or did this just happen? Can they test a future baby for it? Test us?


It is all a bit confusing because this is not why she died. She died as a result of her birth not from this condition.

But is it all linked?

Lots of questions.