Bilateral Anophthalmia is a devastating condition, which is very rare, affecting approximately one in every 100,000 births. In this condition, babies are born without eyes i.e. they are born with empty eye sockets. This condition occurs due to the foetus not developing eyes in the normal way in the first 28 days of pregnancy. Babies born with this condition are often fitted with prosthetic eyes to allow normal facial development.
Researchers from the Human Genetics Unit in Edinburgh who published their study in the journal Nature Genetics, have discovered that at least some of the babies born with this condition have their roots in a mutation of a gene called SOX2. The geneticists who tested the SOX2 gene in children born with the condition and found mutations in many of them, reassured parents that these genetic mistakes were not passed down from them. Instead, they are believed to have arisen spontaneously in either the egg or sperm involved.
Dr David Fitzpatrick, from the Human Genetics Unit, said that the research indicated that SOX2 plays a critical role in eye development and other genes that directly interact with SOX2 may be mutated in children affected with similar and more common conditions. The scientists involved in the study believed that this finding will help doctors understand anophthalmia better and also help patients with other degenerative eye conditions, such as retinal and macular degeneration, cataracts and glaucoma.