Monday, December 12, 2011

Babies Born With No Eyes: Scientists Identify Genetic Cause

Anophthalmia is what the condition is called when a child is born with no eyes. In Dublin, Ireland, scientists at the University College Dublin, have found a genetic alteration which causes this condition. This seems to be a recessive condition that happens when  the child has mutations in both copies of the STRA6 gene. This gene is connected with carrying vitamin A to the cells. Because of this discovery, now the fetus can be screened for carrying this abnormality. In the future, this may be added to a routine screening for amniocentesis.

http://www.eurekalert.org/pub_releases/2011-12/ucd-bbw121211.php

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