LCA- Leber's Congenital Amourosis and Joubert Syndrome


#1

Hi
I was just wondering if any of your children have either of these problems related to the eyes. I am also wondering if any of your children have been diagnosed with metabolic disorders?
Thanks
Abby


#2

my daughter is 5 1/2 months and can not see… her eyes are fine but it has to do with the ACC somthing isn’t working and she can’t see… i just hope in time she will.


#3

I wonder if your opthamologist has considered LCA. I do believe though that it might have nothing to do with the ACC, well at least the ACC is not the cause of it. Congenital blindness is usually the first symptom. I am just finding out about all this info because of my son’s issues. He can see but not very well. We have been for testing in Boston and are now going back to the geneticist.


#4

For the lady whose daughter cannot see - often a condition called septo-optic dysplasia goes along with the ACC. Your child should definitely have optic nerves checked and also see an endocrine doctor to be sure those are functioning normally.

Jane in MN