HUM-MOLGEN DIAGnostics/Clinical Research

30 March 1998
Isolated Anophthalmia 

I am following a 10 mo white female with congenital bilateral anophthalmia.  She is growing and developing nicely.  No other abnormality has been found.  We have checked structures of the heart, brain, and kidneys.  Her endocrine system checks-out fine.  The chromosomes are 46,XX.

This condition is rare. I have not heard of any research on this condition.  The parents wonder if their situation is recessive.  They are willing to send blood for DNA.

Is there any one interested in doing genetic studies on this family?

Anthony Perszyk MD
Nemours Children's Clinic
Jacksonville, Florida USA