11 May 2007
According to the UK’s Sunday Times and Daily Telegraph newspapers, The Bridge Centre in London has been granted a licence by the Human Fertilisation and Embryology Authority to use preimplantation genetic diagnosis (PGD) to test the embryos of a couple at risk of having a child with a genetic eye condition called congenital fibrosis of the extraocular muscles (CFEOM).
CFEOM is an extremely rare autosomal dominant congenital condition that causes inability to move the eyes (see GeneReviews summary for further information). Individuals with this condition are unable to raise their eyes above the horizontal, may have droopy eyelids and mis-aligned eyes (appearing ‘cross-eyed’), and lack binocular vision. Horizontal movement of the eyes may also be restricted. Surgery to the eye muscles may improve some aspects of the condition but results are limited and variable. The condition can cause severe distress to those affected but is not progressive or life-threatening. Molecular genetic testing is available for the most common type of CFEOM, Type 1, which is caused by mutations in the KIF21A gene.
In the case of the couple whose treatment has been licensed by the HFEA, the male partner is affected by the condition, as is his father. Without PGD, there is a 50% risk that the couple would have an affected baby. The couple say they want to spare their children from the disfiguring nature of the condition and from the need for potentially dangerous surgery. Critics claim that PGD should not be licensed for conditions they describe as ‘cosmetic’.