HUM-MOLGEN DIAGnostics/Clinical Research


congenital endothelial corneal dystrophy

I recently saw a baby with congenital endothelial corneal dystrophy. He is an isolated case. The parents have been examined by the ophthalmologist and have normal eyes. Dominant and recessive forms of this exist and the latter are more common with an early age of onset. However, the two patterns of inheritance cannot be reliably distinguished in an isolated case. The parents are very concerned about recurrence risk. Is anyone able to offer any way to tell whether this child represents a fresh dominant mutation or recessive inheritance? Thank you. Liz Thompson.